Canonical Allele Identifier: CA401214750

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223506-T-C
• MyVariant Identifiers: chr17:g.76219587T>C (hg19) ; chr17:g.78223506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223506T>C , CM000679.2:g.78223506T>C	GRCh38
NC_000017.10:g.76219587T>C , CM000679.1:g.76219587T>C	GRCh37
NC_000017.9:g.73731182T>C	NCBI36
NG_029069.1:g.14311T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.381T>C MANE Select	ENSP00000324180.4:p.Thr127=
ENST00000301633.8:c.450T>C	ENSP00000301633.3:p.Thr150=
ENST00000350051.7:c.381T>C	ENSP00000324180.4:p.Thr127=
ENST00000374948.6:c.263T>C	ENSP00000364086.1:p.Leu88Pro
ENST00000589892.1:n.397T>C
ENST00000590925.6:c.*183T>C	ENSP00000467336.1:n.*183T>C
NM_001012270.1:c.263T>C	NP_001012270.1:p.Leu88Pro
NM_001012271.1:c.450T>C	NP_001012271.1:p.Thr150=
NM_001168.2:c.381T>C	NP_001159.2:p.Thr127=
XR_243654.3:n.583T>C
XR_934452.1:n.652T>C
XR_243654.5:n.583T>C
XR_934452.3:n.652T>C
NM_001168.3:c.381T>C MANE Select	NP_001159.2:p.Thr127=
NM_001012270.2:c.263T>C	NP_001012270.1:p.Leu88Pro
NM_001012271.2:c.450T>C	NP_001012271.1:p.Thr150=