Canonical Allele Identifier: CA401214736

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219586C>A (hg19) ; chr17:g.78223505C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223505C>A , CM000679.2:g.78223505C>A	GRCh38
NC_000017.10:g.76219586C>A , CM000679.1:g.76219586C>A	GRCh37
NC_000017.9:g.73731181C>A	NCBI36
NG_029069.1:g.14310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.380C>A MANE Select	ENSP00000324180.4:p.Thr127Asn
ENST00000301633.8:c.449C>A	ENSP00000301633.3:p.Thr150Asn
ENST00000350051.7:c.380C>A	ENSP00000324180.4:p.Thr127Asn
ENST00000374948.6:c.262C>A	ENSP00000364086.1:p.Leu88Met
ENST00000589892.1:n.396C>A
ENST00000590925.6:c.*182C>A	ENSP00000467336.1:n.*182C>A
NM_001012270.1:c.262C>A	NP_001012270.1:p.Leu88Met
NM_001012271.1:c.449C>A	NP_001012271.1:p.Thr150Asn
NM_001168.2:c.380C>A	NP_001159.2:p.Thr127Asn
XR_243654.3:n.582C>A
XR_934452.1:n.651C>A
XR_243654.5:n.582C>A
XR_934452.3:n.651C>A
NM_001168.3:c.380C>A MANE Select	NP_001159.2:p.Thr127Asn
NM_001012270.2:c.262C>A	NP_001012270.1:p.Leu88Met
NM_001012271.2:c.449C>A	NP_001012271.1:p.Thr150Asn