Canonical Allele Identifier: CA401215744

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219709C>G (hg19) ; chr17:g.78223628C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223628C>G , CM000679.2:g.78223628C>G	GRCh38
NC_000017.10:g.76219709C>G , CM000679.1:g.76219709C>G	GRCh37
NC_000017.9:g.73731304C>G	NCBI36
NG_029069.1:g.14433C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*74C>G MANE Select	ENSP00000324180.4:n.*74C>G
ENST00000301633.8:c.*74C>G	ENSP00000301633.3:n.*74C>G
ENST00000350051.7:c.*74C>G	ENSP00000324180.4:n.*74C>G
ENST00000374948.6:c.385C>G	ENSP00000364086.1:p.Leu129Val
ENST00000589892.1:n.519C>G
NM_001012270.1:c.385C>G	NP_001012270.1:p.Leu129Val
NM_001012271.1:c.*74C>G	NP_001012271.1:n.*74C>G
NM_001168.2:c.*74C>G	NP_001159.2:n.*74C>G
XR_243654.3:n.705C>G
XR_934452.1:n.774C>G
XR_243654.5:n.705C>G
XR_934452.3:n.774C>G
NM_001168.3:c.*74C>G MANE Select	NP_001159.2:n.*74C>G
NM_001012270.2:c.385C>G	NP_001012270.1:p.Leu129Val
NM_001012271.2:c.*74C>G	NP_001012271.1:n.*74C>G