Canonical Allele Identifier: CA401214907

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223523-G-T
• MyVariant Identifiers: chr17:g.76219604G>T (hg19) ; chr17:g.78223523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223523G>T , CM000679.2:g.78223523G>T	GRCh38
NC_000017.10:g.76219604G>T , CM000679.1:g.76219604G>T	GRCh37
NC_000017.9:g.73731199G>T	NCBI36
NG_029069.1:g.14328G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.398G>T MANE Select	ENSP00000324180.4:p.Arg133Leu
ENST00000301633.8:c.467G>T	ENSP00000301633.3:p.Arg156Leu
ENST00000350051.7:c.398G>T	ENSP00000324180.4:p.Arg133Leu
ENST00000374948.6:c.280G>T	ENSP00000364086.1:p.Val94Leu
ENST00000589892.1:n.414G>T
ENST00000590925.6:c.*200G>T	ENSP00000467336.1:n.*200G>T
NM_001012270.1:c.280G>T	NP_001012270.1:p.Val94Leu
NM_001012271.1:c.467G>T	NP_001012271.1:p.Arg156Leu
NM_001168.2:c.398G>T	NP_001159.2:p.Arg133Leu
XR_243654.3:n.600G>T
XR_934452.1:n.669G>T
XR_243654.5:n.600G>T
XR_934452.3:n.669G>T
NM_001168.3:c.398G>T MANE Select	NP_001159.2:p.Arg133Leu
NM_001012270.2:c.280G>T	NP_001012270.1:p.Val94Leu
NM_001012271.2:c.467G>T	NP_001012271.1:p.Arg156Leu