Canonical Allele Identifier: CA775350852

Gene: BIRC5

Linked Data

• dbSNP Id: rs1379911844
• gnomAD v3: 17-78224133-C-G
• gnomAD v4: 17-78224133-C-G
• MyVariant Identifiers: chr17:g.76220214C>G (hg19) ; chr17:g.78224133C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224133C>G , CM000679.2:g.78224133C>G	GRCh38
NC_000017.10:g.76220214C>G , CM000679.1:g.76220214C>G	GRCh37
NC_000017.9:g.73731809C>G	NCBI36
NG_029069.1:g.14938C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*579C>G MANE Select	ENSP00000324180.4:n.*579C>G
ENST00000301633.8:c.*579C>G	ENSP00000301633.3:n.*579C>G
ENST00000350051.7:c.*579C>G	ENSP00000324180.4:n.*579C>G
ENST00000374948.6:c.*476C>G	ENSP00000364086.1:n.*476C>G
NM_001012270.1:c.*476C>G	NP_001012270.1:n.*476C>G
NM_001012271.1:c.*579C>G	NP_001012271.1:n.*579C>G
NM_001168.2:c.*579C>G	NP_001159.2:n.*579C>G
XR_243654.3:n.1210C>G
XR_934452.1:n.1279C>G
XR_243654.5:n.1210C>G
XR_934452.3:n.1279C>G
NM_001168.3:c.*579C>G MANE Select	NP_001159.2:n.*579C>G
NM_001012270.2:c.*476C>G	NP_001012270.1:n.*476C>G
NM_001012271.2:c.*579C>G	NP_001012271.1:n.*579C>G