Canonical Allele Identifier: CA122517

Gene: SRC

Linked Data

• ClinVar Variation Id: 12573
• ClinVar RCV Id: RCV000013401 ; RCV000428592
• dbSNP Id: rs121913314
• gnomAD v4: 20-37403359-C-T
• COSMIC: COSM1369
• MyVariant Identifiers: chr20:g.36031762C>T (hg19) ; chr20:g.37403359C>T (hg38)
• PubMed: PMID:9988270 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.37403359C>T , CM000682.2:g.37403359C>T	GRCh38
NC_000020.10:g.36031762C>T , CM000682.1:g.36031762C>T	GRCh37
NC_000020.9:g.35465176C>T	NCBI36
NG_023033.1:g.63675C>T , LRG_1018:g.63675C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000358208.9:c.1642C>T	ENSP00000350941.5:p.Gln548Ter
ENST00000692112.1:c.1591C>T	ENSP00000508666.1:p.Gln531Ter
ENST00000692423.1:c.1591C>T	ENSP00000509325.1:p.Gln531Ter
ENST00000373578.7:c.1591C>T MANE Select	ENSP00000362680.2:p.Gln531Ter
ENST00000358208.8:c.1591C>T	ENSP00000350941.4:p.Gln531Ter
ENST00000373558.2:c.1609C>T	ENSP00000362659.2:p.Gln537Ter
ENST00000373567.6:c.1591C>T	ENSP00000362668.2:p.Gln531Ter
ENST00000373578.6:c.1591C>T	ENSP00000362680.2:p.Gln531Ter
ENST00000477066.5:n.1237C>T
NM_005417.4:c.1591C>T	NP_005408.1:p.Gln531Ter
NM_198291.2:c.1591C>T , LRG_1018t1:c.1591C>T	NP_938033.1:p.Gln531Ter
XM_011529013.1:c.1591C>T	XP_011527315.1:p.Gln531Ter
XM_011529014.1:c.1591C>T	XP_011527316.1:p.Gln531Ter
XM_011529013.2:c.1591C>T	XP_011527315.1:p.Gln531Ter
XM_017028024.1:c.1609C>T	XP_016883513.1:p.Gln537Ter
XM_017028025.1:c.1609C>T	XP_016883514.1:p.Gln537Ter
XM_017028026.1:c.1609C>T	XP_016883515.1:p.Gln537Ter
XM_017028027.2:c.1609C>T	XP_016883516.1:p.Gln537Ter
NM_005417.5:c.1591C>T	NP_005408.1:p.Gln531Ter
NM_198291.3:c.1591C>T MANE Select	NP_938033.1:p.Gln531Ter