Canonical Allele Identifier: CA15906251

Gene: BIRC5

Linked Data

• dbSNP Id: rs1042489
• gnomAD v2: 17-76220206-T-C
• gnomAD v3: 17-78224125-T-C
• gnomAD v4: 17-78224125-T-C
• MyVariant Identifiers: chr17:g.76220206T>C (hg19) ; chr17:g.78224125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224125T>C , CM000679.2:g.78224125T>C	GRCh38
NC_000017.10:g.76220206T>C , CM000679.1:g.76220206T>C	GRCh37
NC_000017.9:g.73731801T>C	NCBI36
NG_029069.1:g.14930T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*571T>C MANE Select	ENSP00000324180.4:n.*571T>C
ENST00000301633.8:c.*571T>C	ENSP00000301633.3:n.*571T>C
ENST00000350051.7:c.*571T>C	ENSP00000324180.4:n.*571T>C
ENST00000374948.6:c.*468T>C	ENSP00000364086.1:n.*468T>C
NM_001012270.1:c.*468T>C	NP_001012270.1:n.*468T>C
NM_001012271.1:c.*571T>C	NP_001012271.1:n.*571T>C
NM_001168.2:c.*571T>C	NP_001159.2:n.*571T>C
XR_243654.3:n.1202T>C
XR_934452.1:n.1271T>C
XR_243654.5:n.1202T>C
XR_934452.3:n.1271T>C
NM_001168.3:c.*571T>C MANE Select	NP_001159.2:n.*571T>C
NM_001012270.2:c.*468T>C	NP_001012270.1:n.*468T>C
NM_001012271.2:c.*571T>C	NP_001012271.1:n.*571T>C