Canonical Allele Identifier: CA401214487

Gene: BIRC5

Linked Data

• MyVariant Identifiers: chr17:g.76219564A>C (hg19) ; chr17:g.78223483A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223483A>C , CM000679.2:g.78223483A>C	GRCh38
NC_000017.10:g.76219564A>C , CM000679.1:g.76219564A>C	GRCh37
NC_000017.9:g.73731159A>C	NCBI36
NG_029069.1:g.14288A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.358A>C MANE Select	ENSP00000324180.4:p.Lys120Gln
ENST00000301633.8:c.427A>C	ENSP00000301633.3:p.Lys143Gln
ENST00000350051.7:c.358A>C	ENSP00000324180.4:p.Lys120Gln
ENST00000374948.6:c.240A>C	ENSP00000364086.1:p.Ile80=
ENST00000589892.1:n.374A>C
ENST00000590925.6:c.*160A>C	ENSP00000467336.1:n.*160A>C
NM_001012270.1:c.240A>C	NP_001012270.1:p.Ile80=
NM_001012271.1:c.427A>C	NP_001012271.1:p.Lys143Gln
NM_001168.2:c.358A>C	NP_001159.2:p.Lys120Gln
XR_243654.3:n.560A>C
XR_934452.1:n.629A>C
XR_243654.5:n.560A>C
XR_934452.3:n.629A>C
NM_001168.3:c.358A>C MANE Select	NP_001159.2:p.Lys120Gln
NM_001012270.2:c.240A>C	NP_001012270.1:p.Ile80=
NM_001012271.2:c.427A>C	NP_001012271.1:p.Lys143Gln