Canonical Allele Identifier: CA401214603

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223494-A-G
• MyVariant Identifiers: chr17:g.76219575A>G (hg19) ; chr17:g.78223494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223494A>G , CM000679.2:g.78223494A>G	GRCh38
NC_000017.10:g.76219575A>G , CM000679.1:g.76219575A>G	GRCh37
NC_000017.9:g.73731170A>G	NCBI36
NG_029069.1:g.14299A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.369A>G MANE Select	ENSP00000324180.4:p.Glu123=
ENST00000301633.8:c.438A>G	ENSP00000301633.3:p.Glu146=
ENST00000350051.7:c.369A>G	ENSP00000324180.4:p.Glu123=
ENST00000374948.6:c.251A>G	ENSP00000364086.1:p.Asn84Ser
ENST00000589892.1:n.385A>G
ENST00000590925.6:c.*171A>G	ENSP00000467336.1:n.*171A>G
NM_001012270.1:c.251A>G	NP_001012270.1:p.Asn84Ser
NM_001012271.1:c.438A>G	NP_001012271.1:p.Glu146=
NM_001168.2:c.369A>G	NP_001159.2:p.Glu123=
XR_243654.3:n.571A>G
XR_934452.1:n.640A>G
XR_243654.5:n.571A>G
XR_934452.3:n.640A>G
NM_001168.3:c.369A>G MANE Select	NP_001159.2:p.Glu123=
NM_001012270.2:c.251A>G	NP_001012270.1:p.Asn84Ser
NM_001012271.2:c.438A>G	NP_001012271.1:p.Glu146=