Canonical Allele Identifier: CA401214429

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223479-C-A
• MyVariant Identifiers: chr17:g.76219560C>A (hg19) ; chr17:g.78223479C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223479C>A , CM000679.2:g.78223479C>A	GRCh38
NC_000017.10:g.76219560C>A , CM000679.1:g.76219560C>A	GRCh37
NC_000017.9:g.73731155C>A	NCBI36
NG_029069.1:g.14284C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.354C>A MANE Select	ENSP00000324180.4:p.Asn118Lys
ENST00000301633.8:c.423C>A	ENSP00000301633.3:p.Asn141Lys
ENST00000350051.7:c.354C>A	ENSP00000324180.4:p.Asn118Lys
ENST00000374948.6:c.236C>A	ENSP00000364086.1:p.Thr79Lys
ENST00000589892.1:n.370C>A
ENST00000590925.6:c.*156C>A	ENSP00000467336.1:n.*156C>A
NM_001012270.1:c.236C>A	NP_001012270.1:p.Thr79Lys
NM_001012271.1:c.423C>A	NP_001012271.1:p.Asn141Lys
NM_001168.2:c.354C>A	NP_001159.2:p.Asn118Lys
XR_243654.3:n.556C>A
XR_934452.1:n.625C>A
XR_243654.5:n.556C>A
XR_934452.3:n.625C>A
NM_001168.3:c.354C>A MANE Select	NP_001159.2:p.Asn118Lys
NM_001012270.2:c.236C>A	NP_001012270.1:p.Thr79Lys
NM_001012271.2:c.423C>A	NP_001012271.1:p.Asn141Lys