Canonical Allele Identifier: CA401214364

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219551G>C (hg19) ; chr17:g.78223470G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223470G>C , CM000679.2:g.78223470G>C	GRCh38
NC_000017.10:g.76219551G>C , CM000679.1:g.76219551G>C	GRCh37
NC_000017.9:g.73731146G>C	NCBI36
NG_029069.1:g.14275G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.345G>C MANE Select	ENSP00000324180.4:p.Lys115Asn
ENST00000301633.8:c.414G>C	ENSP00000301633.3:p.Lys138Asn
ENST00000350051.7:c.345G>C	ENSP00000324180.4:p.Lys115Asn
ENST00000374948.6:c.227G>C	ENSP00000364086.1:p.Arg76Thr
ENST00000589892.1:n.361G>C
ENST00000590925.6:c.*147G>C	ENSP00000467336.1:n.*147G>C
NM_001012270.1:c.227G>C	NP_001012270.1:p.Arg76Thr
NM_001012271.1:c.414G>C	NP_001012271.1:p.Lys138Asn
NM_001168.2:c.345G>C	NP_001159.2:p.Lys115Asn
XR_243654.3:n.547G>C
XR_934452.1:n.616G>C
XR_243654.5:n.547G>C
XR_934452.3:n.616G>C
NM_001168.3:c.345G>C MANE Select	NP_001159.2:p.Lys115Asn
NM_001012270.2:c.227G>C	NP_001012270.1:p.Arg76Thr
NM_001012271.2:c.414G>C	NP_001012271.1:p.Lys138Asn