RGD:15188089 Rat Genome Database

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Variant: RGD:15188089 -  Homo sapiens

RGD ID: 15188089
RS ID: rs76801214
ClinVar ID: CV737223
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTSL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 90,343,265
GRCh38 9 87,728,350
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001257973.2:c.-17-368C>A
NM_001257971.2:c.350C>A
NM_001257972.2:c.350C>A
NM_001912.5:c.350C>A
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CTSL
Accession:NM_001257973
Location:5UTRS;INTRON

Gene Symbol:CTSL
Accession:NM_145918
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAF
GDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLIS
LSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVA
TVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKYWLVKNSWGEEWGMGGYVKMAKDRRN
HCGIASAASYPTV*

Gene Symbol:CTSL
Accession:NM_001257971
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAF
GDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLIS
LSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVA
TVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKYWLVKNSWGEEWGMGGYVKMAKDRRN
HCGIASAASYPTV*

Gene Symbol:CTSL
Accession:NM_001382766
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAF
GDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLIS
LSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVA
TVGPISVAIDAGHESFLFYKEAGVKNGAWVAT*

Gene Symbol:CTSL
Accession:NM_001382768
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAF
GDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLIS
LSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVA
TVGPISVAIDAGHESFLFYKEAGVKNGAWVAT*

Gene Symbol:CTSL
Accession:NM_001382767
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAF
GDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLIS
LSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVA
TVGPISVAIDAGHESFLFYKEAGVKNGAWVAT*

Gene Symbol:CTSL
Accession:NM_001382757
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAF
GDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLIS
LSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVA
TVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKYWLVKNSWGEEWGMGGYVKMAKDRRN
HCGIASAASYPTV*

Gene Symbol:CTSL
Accession:NM_001257972
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAF
GDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLIS
LSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVA
TVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKYWLVKNSWGEEWGMGGYVKMAKDRRN
HCGIASAASYPTV*

Gene Symbol:CTSL
Accession:NM_001382758
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 62
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKMIELHNQEYREGKHSFTMAMNAFGDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQC
GSCWAFSATGALEGQMFRKTGRLISLSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNP
KYSVANDTGFVDIPKQEKALMKAVATVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKY
WLVKNSWGEEWGMGGYVKMAKDRRNHCGIASAASYPTV*

Gene Symbol:CTSL
Accession:NM_001912
Location:EXON
Amino Acid Prediction: S to Y (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPTLILAAFCLGIASATLTFDHSLEAQWTKWKAMHNRLYGMNEEGWRRAVWEKNMKMIELHNQEYREGKHSFTMAMNAF
GDMTSEEFRQVMNGFQNRKPRKGKVFQEPLFYEAPRYVDWREKGYVTPVKNQGQCGSCWAFSATGALEGQMFRKTGRLIS
LSEQNLVDCSGPQGNEGCNGGLMDYAFQYVQDNGGLDSEESYPYEATEESCKYNPKYSVANDTGFVDIPKQEKALMKAVA
TVGPISVAIDAGHESFLFYKEGIYFEPDCSSEDMDHGVLVVGYGFESTESDNNKYWLVKNSWGEEWGMGGYVKMAKDRRN
HCGIASAASYPTV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000909270 CLINVAR
dbSNP (RS) rs76801214 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CTSL CLINVAR
OMIM 116880 CLINVAR