Canonical Allele Identifier: CA401214732

Gene: BIRC5

Linked Data

• dbSNP Id: rs2076528515
• gnomAD v3: 17-78223504-A-G
• gnomAD v4: 17-78223504-A-G
• MyVariant Identifiers: chr17:g.76219585A>G (hg19) ; chr17:g.78223504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223504A>G , CM000679.2:g.78223504A>G	GRCh38
NC_000017.10:g.76219585A>G , CM000679.1:g.76219585A>G	GRCh37
NC_000017.9:g.73731180A>G	NCBI36
NG_029069.1:g.14309A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.379A>G MANE Select	ENSP00000324180.4:p.Thr127Ala
ENST00000301633.8:c.448A>G	ENSP00000301633.3:p.Thr150Ala
ENST00000350051.7:c.379A>G	ENSP00000324180.4:p.Thr127Ala
ENST00000374948.6:c.261A>G	ENSP00000364086.1:p.Lys87=
ENST00000589892.1:n.395A>G
ENST00000590925.6:c.*181A>G	ENSP00000467336.1:n.*181A>G
NM_001012270.1:c.261A>G	NP_001012270.1:p.Lys87=
NM_001012271.1:c.448A>G	NP_001012271.1:p.Thr150Ala
NM_001168.2:c.379A>G	NP_001159.2:p.Thr127Ala
XR_243654.3:n.581A>G
XR_934452.1:n.650A>G
XR_243654.5:n.581A>G
XR_934452.3:n.650A>G
NM_001168.3:c.379A>G MANE Select	NP_001159.2:p.Thr127Ala
NM_001012270.2:c.261A>G	NP_001012270.1:p.Lys87=
NM_001012271.2:c.448A>G	NP_001012271.1:p.Thr150Ala