Canonical Allele Identifier: CA8798637

Gene: BIRC5

Linked Data

• ClinVar Variation Id: 2462715
• ClinVar RCV Id: RCV004257633
• dbSNP Id: rs375947077
• ExAC: 17:76219603 C / T
• gnomAD v2: 17-76219603-C-T
• gnomAD v3: 17-78223522-C-T
• gnomAD v4: 17-78223522-C-T
• MyVariant Identifiers: chr17:g.76219603C>T (hg19) ; chr17:g.78223522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223522C>T , CM000679.2:g.78223522C>T	GRCh38
NC_000017.10:g.76219603C>T , CM000679.1:g.76219603C>T	GRCh37
NC_000017.9:g.73731198C>T	NCBI36
NG_029069.1:g.14327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.397C>T MANE Select	ENSP00000324180.4:p.Arg133Cys
ENST00000301633.8:c.466C>T	ENSP00000301633.3:p.Arg156Cys
ENST00000350051.7:c.397C>T	ENSP00000324180.4:p.Arg133Cys
ENST00000374948.6:c.279C>T	ENSP00000364086.1:p.Ala93=
ENST00000589892.1:n.413C>T
ENST00000590925.6:c.*199C>T	ENSP00000467336.1:n.*199C>T
NM_001012270.1:c.279C>T	NP_001012270.1:p.Ala93=
NM_001012271.1:c.466C>T	NP_001012271.1:p.Arg156Cys
NM_001168.2:c.397C>T	NP_001159.2:p.Arg133Cys
XR_243654.3:n.599C>T
XR_934452.1:n.668C>T
XR_243654.5:n.599C>T
XR_934452.3:n.668C>T
NM_001168.3:c.397C>T MANE Select	NP_001159.2:p.Arg133Cys
NM_001012270.2:c.279C>T	NP_001012270.1:p.Ala93=
NM_001012271.2:c.466C>T	NP_001012271.1:p.Arg156Cys