Canonical Allele Identifier: CA8798628

Gene: BIRC5

Linked Data

• dbSNP Id: rs150188047
• ExAC: 17:76219572 A / G
• gnomAD v2: 17-76219572-A-G
• gnomAD v4: 17-78223491-A-G
• MyVariant Identifiers: chr17:g.76219572A>G (hg19) ; chr17:g.78223491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223491A>G , CM000679.2:g.78223491A>G	GRCh38
NC_000017.10:g.76219572A>G , CM000679.1:g.76219572A>G	GRCh37
NC_000017.9:g.73731167A>G	NCBI36
NG_029069.1:g.14296A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.366A>G MANE Select	ENSP00000324180.4:p.Lys122=
ENST00000301633.8:c.435A>G	ENSP00000301633.3:p.Lys145=
ENST00000350051.7:c.366A>G	ENSP00000324180.4:p.Lys122=
ENST00000374948.6:c.248A>G	ENSP00000364086.1:p.Lys83Arg
ENST00000589892.1:n.382A>G
ENST00000590925.6:c.*168A>G	ENSP00000467336.1:n.*168A>G
NM_001012270.1:c.248A>G	NP_001012270.1:p.Lys83Arg
NM_001012271.1:c.435A>G	NP_001012271.1:p.Lys145=
NM_001168.2:c.366A>G	NP_001159.2:p.Lys122=
XR_243654.3:n.568A>G
XR_934452.1:n.637A>G
XR_243654.5:n.568A>G
XR_934452.3:n.637A>G
NM_001168.3:c.366A>G MANE Select	NP_001159.2:p.Lys122=
NM_001012270.2:c.248A>G	NP_001012270.1:p.Lys83Arg
NM_001012271.2:c.435A>G	NP_001012271.1:p.Lys145=