Canonical Allele Identifier: CA775350848

Gene: BIRC5

Linked Data

• dbSNP Id: rs1353947412
• gnomAD v4: 17-78224067-T-G
• MyVariant Identifiers: chr17:g.76220148T>G (hg19) ; chr17:g.78224067T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78224067T>G , CM000679.2:g.78224067T>G	GRCh38
NC_000017.10:g.76220148T>G , CM000679.1:g.76220148T>G	GRCh37
NC_000017.9:g.73731743T>G	NCBI36
NG_029069.1:g.14872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350051.8:c.*513T>G MANE Select	ENSP00000324180.4:n.*513T>G
ENST00000301633.8:c.*513T>G	ENSP00000301633.3:n.*513T>G
ENST00000350051.7:c.*513T>G	ENSP00000324180.4:n.*513T>G
ENST00000374948.6:c.*410T>G	ENSP00000364086.1:n.*410T>G
NM_001012270.1:c.*410T>G	NP_001012270.1:n.*410T>G
NM_001012271.1:c.*513T>G	NP_001012271.1:n.*513T>G
NM_001168.2:c.*513T>G	NP_001159.2:n.*513T>G
XR_243654.3:n.1144T>G
XR_934452.1:n.1213T>G
XR_243654.5:n.1144T>G
XR_934452.3:n.1213T>G
NM_001168.3:c.*513T>G MANE Select	NP_001159.2:n.*513T>G
NM_001012270.2:c.*410T>G	NP_001012270.1:n.*410T>G
NM_001012271.2:c.*513T>G	NP_001012271.1:n.*513T>G