Canonical Allele Identifier: CA294307570

Gene: BIRC5

Linked Data

• dbSNP Id: rs77903511
• gnomAD v2: 17-76220145-G-T
• gnomAD v3: 17-78224064-G-T
• gnomAD v4: 17-78224064-G-T
• COSMIC: COSN17474715
• MyVariant Identifiers: chr17:g.76220145G>T (hg19) ; chr17:g.76220145_76220147delinsTTT (hg19) ; chr17:g.78224064G>T (hg38) ; chr17:g.78224064_78224066delinsTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224064G>T , CM000679.2:g.78224064G>T	GRCh38
NC_000017.10:g.76220145G>T , CM000679.1:g.76220145G>T	GRCh37
NC_000017.9:g.73731740G>T	NCBI36
NG_029069.1:g.14869G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*510G>T MANE Select	ENSP00000324180.4:n.*510G>T
ENST00000301633.8:c.*510G>T	ENSP00000301633.3:n.*510G>T
ENST00000350051.7:c.*510G>T	ENSP00000324180.4:n.*510G>T
ENST00000374948.6:c.*407G>T	ENSP00000364086.1:n.*407G>T
NM_001012270.1:c.*407G>T	NP_001012270.1:n.*407G>T
NM_001012271.1:c.*510G>T	NP_001012271.1:n.*510G>T
NM_001168.2:c.*510G>T	NP_001159.2:n.*510G>T
XR_243654.3:n.1141G>T
XR_934452.1:n.1210G>T
XR_243654.5:n.1141G>T
XR_934452.3:n.1210G>T
NM_001168.3:c.*510G>T MANE Select	NP_001159.2:n.*510G>T
NM_001012270.2:c.*407G>T	NP_001012270.1:n.*407G>T
NM_001012271.2:c.*510G>T	NP_001012271.1:n.*510G>T