Canonical Allele Identifier: CA401214555

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223490-A-C
• MyVariant Identifiers: chr17:g.76219571A>C (hg19) ; chr17:g.78223490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223490A>C , CM000679.2:g.78223490A>C	GRCh38
NC_000017.10:g.76219571A>C , CM000679.1:g.76219571A>C	GRCh37
NC_000017.9:g.73731166A>C	NCBI36
NG_029069.1:g.14295A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.365A>C MANE Select	ENSP00000324180.4:p.Lys122Thr
ENST00000301633.8:c.434A>C	ENSP00000301633.3:p.Lys145Thr
ENST00000350051.7:c.365A>C	ENSP00000324180.4:p.Lys122Thr
ENST00000374948.6:c.247A>C	ENSP00000364086.1:p.Lys83Gln
ENST00000589892.1:n.381A>C
ENST00000590925.6:c.*167A>C	ENSP00000467336.1:n.*167A>C
NM_001012270.1:c.247A>C	NP_001012270.1:p.Lys83Gln
NM_001012271.1:c.434A>C	NP_001012271.1:p.Lys145Thr
NM_001168.2:c.365A>C	NP_001159.2:p.Lys122Thr
XR_243654.3:n.567A>C
XR_934452.1:n.636A>C
XR_243654.5:n.567A>C
XR_934452.3:n.636A>C
NM_001168.3:c.365A>C MANE Select	NP_001159.2:p.Lys122Thr
NM_001012270.2:c.247A>C	NP_001012270.1:p.Lys83Gln
NM_001012271.2:c.434A>C	NP_001012271.1:p.Lys145Thr