Canonical Allele Identifier: CA401214637

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219578T>A (hg19) ; chr17:g.78223497T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223497T>A , CM000679.2:g.78223497T>A	GRCh38
NC_000017.10:g.76219578T>A , CM000679.1:g.76219578T>A	GRCh37
NC_000017.9:g.73731173T>A	NCBI36
NG_029069.1:g.14302T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.372T>A MANE Select	ENSP00000324180.4:p.Phe124Leu
ENST00000301633.8:c.441T>A	ENSP00000301633.3:p.Phe147Leu
ENST00000350051.7:c.372T>A	ENSP00000324180.4:p.Phe124Leu
ENST00000374948.6:c.254T>A	ENSP00000364086.1:p.Leu85Ter
ENST00000589892.1:n.388T>A
ENST00000590925.6:c.*174T>A	ENSP00000467336.1:n.*174T>A
NM_001012270.1:c.254T>A	NP_001012270.1:p.Leu85Ter
NM_001012271.1:c.441T>A	NP_001012271.1:p.Phe147Leu
NM_001168.2:c.372T>A	NP_001159.2:p.Phe124Leu
XR_243654.3:n.574T>A
XR_934452.1:n.643T>A
XR_243654.5:n.574T>A
XR_934452.3:n.643T>A
NM_001168.3:c.372T>A MANE Select	NP_001159.2:p.Phe124Leu
NM_001012270.2:c.254T>A	NP_001012270.1:p.Leu85Ter
NM_001012271.2:c.441T>A	NP_001012271.1:p.Phe147Leu