Canonical Allele Identifier: CA502082246
Gene: BIRC5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.76219724T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78223643T>C , CM000679.2:g.78223643T>C GRCh38
NC_000017.10:g.76219724T>C , CM000679.1:g.76219724T>C GRCh37
NC_000017.9:g.73731319T>C NCBI36
NG_029069.1:g.14448T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.*89T>C MANE Select ENSP00000324180.4:n.*89T>C
ENST00000301633.8:c.*89T>C ENSP00000301633.3:n.*89T>C
ENST00000350051.7:c.*89T>C ENSP00000324180.4:n.*89T>C
ENST00000374948.6:c.400T>C ENSP00000364086.1:p.Leu134=
ENST00000589892.1:n.534T>C
NM_001012270.1:c.400T>C NP_001012270.1:p.Leu134=
NM_001012271.1:c.*89T>C NP_001012271.1:n.*89T>C
NM_001168.2:c.*89T>C NP_001159.2:n.*89T>C
XR_243654.3:n.720T>C
XR_934452.1:n.789T>C
XR_243654.5:n.720T>C
XR_934452.3:n.789T>C
NM_001168.3:c.*89T>C MANE Select NP_001159.2:n.*89T>C
NM_001012270.2:c.400T>C NP_001012270.1:p.Leu134=
NM_001012271.2:c.*89T>C NP_001012271.1:n.*89T>C