Canonical Allele Identifier: CA401214848

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219597G>C (hg19) ; chr17:g.78223516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223516G>C , CM000679.2:g.78223516G>C	GRCh38
NC_000017.10:g.76219597G>C , CM000679.1:g.76219597G>C	GRCh37
NC_000017.9:g.73731192G>C	NCBI36
NG_029069.1:g.14321G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.391G>C MANE Select	ENSP00000324180.4:p.Val131Leu
ENST00000301633.8:c.460G>C	ENSP00000301633.3:p.Val154Leu
ENST00000350051.7:c.391G>C	ENSP00000324180.4:p.Val131Leu
ENST00000374948.6:c.273G>C	ENSP00000364086.1:p.Lys91Asn
ENST00000589892.1:n.407G>C
ENST00000590925.6:c.*193G>C	ENSP00000467336.1:n.*193G>C
NM_001012270.1:c.273G>C	NP_001012270.1:p.Lys91Asn
NM_001012271.1:c.460G>C	NP_001012271.1:p.Val154Leu
NM_001168.2:c.391G>C	NP_001159.2:p.Val131Leu
XR_243654.3:n.593G>C
XR_934452.1:n.662G>C
XR_243654.5:n.593G>C
XR_934452.3:n.662G>C
NM_001168.3:c.391G>C MANE Select	NP_001159.2:p.Val131Leu
NM_001012270.2:c.273G>C	NP_001012270.1:p.Lys91Asn
NM_001012271.2:c.460G>C	NP_001012271.1:p.Val154Leu