Canonical Allele Identifier: CA8798645

Gene: BIRC5

Linked Data

• dbSNP Id: rs761747371
• ExAC: 17:76219654 C / T
• gnomAD v2: 17-76219654-C-T
• gnomAD v4: 17-78223573-C-T
• MyVariant Identifiers: chr17:g.76219654C>T (hg19) ; chr17:g.78223573C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78223573C>T , CM000679.2:g.78223573C>T	GRCh38
NC_000017.10:g.76219654C>T , CM000679.1:g.76219654C>T	GRCh37
NC_000017.9:g.73731249C>T	NCBI36
NG_029069.1:g.14378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*19C>T MANE Select	ENSP00000324180.4:n.*19C>T
ENST00000301633.8:c.*19C>T	ENSP00000301633.3:n.*19C>T
ENST00000350051.7:c.*19C>T	ENSP00000324180.4:n.*19C>T
ENST00000374948.6:c.330C>T	ENSP00000364086.1:p.Cys110=
ENST00000589892.1:n.464C>T
NM_001012270.1:c.330C>T	NP_001012270.1:p.Cys110=
NM_001012271.1:c.*19C>T	NP_001012271.1:n.*19C>T
NM_001168.2:c.*19C>T	NP_001159.2:n.*19C>T
XR_243654.3:n.650C>T
XR_934452.1:n.719C>T
XR_243654.5:n.650C>T
XR_934452.3:n.719C>T
NM_001168.3:c.*19C>T MANE Select	NP_001159.2:n.*19C>T
NM_001012270.2:c.330C>T	NP_001012270.1:p.Cys110=
NM_001012271.2:c.*19C>T	NP_001012271.1:n.*19C>T