RGD:329396184 Rat Genome Database

Variant: RGD:329396184 - Homo sapiens

RGD ID:

329396184

ClinVar ID:

CV2451944

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PROCA1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	27,031,400
GRCh38	17	28,704,382

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001366302.1:c.203G>T NM_001304949.2:c.254G>T NM_152465.3:c.281G>T NM_001304952.2:c.287G>T More...	02/14/2023	intron variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	PROCA1
Accession:	NM_152465
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	94

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRGDCKEPDKCCWRHKQCTGHIIYPFASDCVRHSLHLHSVNHCNCNSRLKDS SEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIP TQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKK SPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQAR KVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	XM_006721723
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRDVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIY PFASDCVRHSLHLHSVNHCNCNSRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRCKSYRPVSVAVIHHPL YHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKE KDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIV ESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001304953
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	22

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCGRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEE EESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAK KGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKT GAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001304949
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	85

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRADAAVAGREERSEDTELTEGDCKEPDKCCWRHKQCTGHIIYPFASDCVRHSLHLHSVNHCNCNSRLKDSSEDSSSSRG AGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATAS PDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSP PDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPP GSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001304954
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	22

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCGRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEE EESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAK KGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKT GAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001304952
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSITYVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIYPFASDCVRHSLHLHSVNHCNCNSRLK DSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPP IPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTK KKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQ ARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001366301
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWVRTTLTIERWTKEKTEPKARSWDESRCRDVNRLPSWERGHLLAGVASSTDVSTFSEGDCKEPDKCCWRHKQCTGHIIY PFASDCVRHSLHLHSVNHCNCNSRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIH HPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKK EKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSE DIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001366302
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	68

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSITCDCKEPDKCCWRHKQCTGHIIYPFASDCVRHSLHLHSVNHCNCNSRLKDSSEDSSSSRGAGPTFSHVIESPCFELT PEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEEEESKPPIPTQVGPATASPDLGTSMATGTPDSTAP ITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAKKGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSE SSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKTGAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001366303
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	22

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCGRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEE EESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAK KGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKT GAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	XM_047435477
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	22

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCGRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEE EESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAK KGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKT GAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	XM_047435476
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	22

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCGRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEE EESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAK KGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKT GAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	XM_047435473
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	22

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCGRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEE EESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAK KGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKT GAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	XM_047435475
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	22

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCGRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEE EESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAK KGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKT GAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	XM_047435474
Location:	EXON
Amino Acid Prediction:	C to F (nonsynonymous)
Amino Acid Position:	22

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCGRLKDSSEDSSSSRGAGPTFSHVIESPCFELTPEEEHVERFRYGWCKSYRPVSVAVIHHPLYHECGADDLNEEEEEEE EESKPPIPTQVGPATASPDLGTSMATGTPDSTAPITIWRSESPTGKGQGSKVIKKVKKKKEKEKDKEEMDEKAKLKKKAK KGQLTKKKSPVKLEPSPPDVSRSLSARQLARMSESSPESREELESEDSYNGRGQGELSSEDIVESSSPRKRENTVQAKKT GAKPSQARKVNKRKSPPGSNPNLS*

Gene Symbol:	PROCA1
Accession:	NM_001304951
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004276607	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	PROCA1	CLINVAR
OMIM	617376	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:329396184 - Homo sapiens