Canonical Allele Identifier: CA294307561

Gene: BIRC5

Linked Data

• dbSNP Id: rs201472247
• gnomAD v2: 17-76220137-G-T
• gnomAD v3: 17-78224056-G-T
• gnomAD v4: 17-78224056-G-T
• MyVariant Identifiers: chr17:g.76220137G>T (hg19) ; chr17:g.78224056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224056G>T , CM000679.2:g.78224056G>T	GRCh38
NC_000017.10:g.76220137G>T , CM000679.1:g.76220137G>T	GRCh37
NC_000017.9:g.73731732G>T	NCBI36
NG_029069.1:g.14861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*502G>T MANE Select	ENSP00000324180.4:n.*502G>T
ENST00000301633.8:c.*502G>T	ENSP00000301633.3:n.*502G>T
ENST00000350051.7:c.*502G>T	ENSP00000324180.4:n.*502G>T
ENST00000374948.6:c.*399G>T	ENSP00000364086.1:n.*399G>T
NM_001012270.1:c.*399G>T	NP_001012270.1:n.*399G>T
NM_001012271.1:c.*502G>T	NP_001012271.1:n.*502G>T
NM_001168.2:c.*502G>T	NP_001159.2:n.*502G>T
XR_243654.3:n.1133G>T
XR_934452.1:n.1202G>T
XR_243654.5:n.1133G>T
XR_934452.3:n.1202G>T
NM_001168.3:c.*502G>T MANE Select	NP_001159.2:n.*502G>T
NM_001012270.2:c.*399G>T	NP_001012270.1:n.*399G>T
NM_001012271.2:c.*502G>T	NP_001012271.1:n.*502G>T