Canonical Allele Identifier: CA294307211

Gene: BIRC5

Linked Data

• dbSNP Id: rs908991160
• gnomAD v4: 17-78223795-T-C
• MyVariant Identifiers: chr17:g.76219876T>C (hg19) ; chr17:g.78223795T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223795T>C , CM000679.2:g.78223795T>C	GRCh38
NC_000017.10:g.76219876T>C , CM000679.1:g.76219876T>C	GRCh37
NC_000017.9:g.73731471T>C	NCBI36
NG_029069.1:g.14600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*241T>C MANE Select	ENSP00000324180.4:n.*241T>C
ENST00000301633.8:c.*241T>C	ENSP00000301633.3:n.*241T>C
ENST00000350051.7:c.*241T>C	ENSP00000324180.4:n.*241T>C
ENST00000374948.6:c.*138T>C	ENSP00000364086.1:n.*138T>C
ENST00000589892.1:n.686T>C
NM_001012270.1:c.*138T>C	NP_001012270.1:n.*138T>C
NM_001012271.1:c.*241T>C	NP_001012271.1:n.*241T>C
NM_001168.2:c.*241T>C	NP_001159.2:n.*241T>C
XR_243654.3:n.872T>C
XR_934452.1:n.941T>C
XR_243654.5:n.872T>C
XR_934452.3:n.941T>C
NM_001168.3:c.*241T>C MANE Select	NP_001159.2:n.*241T>C
NM_001012270.2:c.*138T>C	NP_001012270.1:n.*138T>C
NM_001012271.2:c.*241T>C	NP_001012271.1:n.*241T>C