Canonical Allele Identifier: CA401215083

Gene: BIRC5

Linked Data

• gnomAD v4: 17-78223544-C-T
• COSMIC: COSM3522796 ; COSM3522797 ; COSM3522798 ; COSM3522799
• MyVariant Identifiers: chr17:g.76219625C>T (hg19) ; chr17:g.78223544C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223544C>T , CM000679.2:g.78223544C>T	GRCh38
NC_000017.10:g.76219625C>T , CM000679.1:g.76219625C>T	GRCh37
NC_000017.9:g.73731220C>T	NCBI36
NG_029069.1:g.14349C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.419C>T MANE Select	ENSP00000324180.4:p.Ala140Val
ENST00000301633.8:c.488C>T	ENSP00000301633.3:p.Ala163Val
ENST00000350051.7:c.419C>T	ENSP00000324180.4:p.Ala140Val
ENST00000374948.6:c.301C>T	ENSP00000364086.1:p.Pro101Ser
ENST00000589892.1:n.435C>T
ENST00000590925.6:c.*221C>T	ENSP00000467336.1:n.*221C>T
NM_001012270.1:c.301C>T	NP_001012270.1:p.Pro101Ser
NM_001012271.1:c.488C>T	NP_001012271.1:p.Ala163Val
NM_001168.2:c.419C>T	NP_001159.2:p.Ala140Val
XR_243654.3:n.621C>T
XR_934452.1:n.690C>T
XR_243654.5:n.621C>T
XR_934452.3:n.690C>T
NM_001168.3:c.419C>T MANE Select	NP_001159.2:p.Ala140Val
NM_001012270.2:c.301C>T	NP_001012270.1:p.Pro101Ser
NM_001012271.2:c.488C>T	NP_001012271.1:p.Ala163Val