Canonical Allele Identifier: CA628014616

Gene: BIRC5

Linked Data

• dbSNP Id: rs1328367514
• gnomAD v2: 17-76220138-T-G
• gnomAD v3: 17-78224057-T-G
• gnomAD v4: 17-78224057-T-G
• MyVariant Identifiers: chr17:g.76220138T>G (hg19) ; chr17:g.78224057T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224057T>G , CM000679.2:g.78224057T>G	GRCh38
NC_000017.10:g.76220138T>G , CM000679.1:g.76220138T>G	GRCh37
NC_000017.9:g.73731733T>G	NCBI36
NG_029069.1:g.14862T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*503T>G MANE Select	ENSP00000324180.4:n.*503T>G
ENST00000301633.8:c.*503T>G	ENSP00000301633.3:n.*503T>G
ENST00000350051.7:c.*503T>G	ENSP00000324180.4:n.*503T>G
ENST00000374948.6:c.*400T>G	ENSP00000364086.1:n.*400T>G
NM_001012270.1:c.*400T>G	NP_001012270.1:n.*400T>G
NM_001012271.1:c.*503T>G	NP_001012271.1:n.*503T>G
NM_001168.2:c.*503T>G	NP_001159.2:n.*503T>G
XR_243654.3:n.1134T>G
XR_934452.1:n.1203T>G
XR_243654.5:n.1134T>G
XR_934452.3:n.1203T>G
NM_001168.3:c.*503T>G MANE Select	NP_001159.2:n.*503T>G
NM_001012270.2:c.*400T>G	NP_001012270.1:n.*400T>G
NM_001012271.2:c.*503T>G	NP_001012271.1:n.*503T>G