Canonical Allele Identifier: CA115000
Gene: SI HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.165060026A>G
GRCh37 chr3:g.164777814A>G
Revel Score:
ENST00000264382 (MANE Select) 0.907
ClinVar RCV:
RCV000001478
ClinVar Variation:
1413
dbSNP:
267607049
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.165060026A>G , CM000665.2:g.165060026A>G GRCh38
NC_000003.11:g.164777814A>G , CM000665.1:g.164777814A>G GRCh37
NC_000003.10:g.166260508A>G NCBI36
NG_017043.1:g.23470T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264382.8:c.1022T>C MANE Select ENSP00000264382.3:p.Leu341Pro
ENST00000264382.7:c.1022T>C ENSP00000264382.3:p.Leu341Pro
NM_001041.3:c.1022T>C NP_001032.2:p.Leu341Pro
XM_011513078.1:c.923T>C XP_011511380.1:p.Leu308Pro
XM_011513078.2:c.923T>C XP_011511380.1:p.Leu308Pro
NM_001041.4:c.1022T>C MANE Select NP_001032.2:p.Leu341Pro
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