Canonical Allele Identifier: CA502085039

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223782-C-T
• MyVariant Identifiers: chr17:g.76219863C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223782C>T , CM000679.2:g.78223782C>T	GRCh38
NC_000017.10:g.76219863C>T , CM000679.1:g.76219863C>T	GRCh37
NC_000017.9:g.73731458C>T	NCBI36
NG_029069.1:g.14587C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*228C>T MANE Select	ENSP00000324180.4:n.*228C>T
ENST00000301633.8:c.*228C>T	ENSP00000301633.3:n.*228C>T
ENST00000350051.7:c.*228C>T	ENSP00000324180.4:n.*228C>T
ENST00000374948.6:c.*125C>T	ENSP00000364086.1:n.*125C>T
ENST00000589892.1:n.673C>T
NM_001012270.1:c.*125C>T	NP_001012270.1:n.*125C>T
NM_001012271.1:c.*228C>T	NP_001012271.1:n.*228C>T
NM_001168.2:c.*228C>T	NP_001159.2:n.*228C>T
XR_243654.3:n.859C>T
XR_934452.1:n.928C>T
XR_243654.5:n.859C>T
XR_934452.3:n.928C>T
NM_001168.3:c.*228C>T MANE Select	NP_001159.2:n.*228C>T
NM_001012270.2:c.*125C>T	NP_001012270.1:n.*125C>T
NM_001012271.2:c.*228C>T	NP_001012271.1:n.*228C>T