Canonical Allele Identifier: CA15906251
Gene: BIRC5 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.78224125T>C
GRCh37 chr17:g.76220206T>C
gnomAD v2:
17:76220206 T / C
gnomAD v3:
17:78224125 T / C
gnomAD v4:
chr17-78224125-T-C
Joint Max Group AF 0.43873153 (AFR)
Genomes Max Group AF 0.43900701 (AFR)
Exomes Max Group AF 0.14066702 (NFE)
dbSNP:
1042489
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.78224125T>C , CM000679.2:g.78224125T>C GRCh38
NC_000017.10:g.76220206T>C , CM000679.1:g.76220206T>C GRCh37
NC_000017.9:g.73731801T>C NCBI36
NG_029069.1:g.14930T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000350051.8:c.*571T>C MANE Select ENSP00000324180.4:n.*571T>C
ENST00000301633.8:c.*571T>C ENSP00000301633.3:n.*571T>C
ENST00000350051.7:c.*571T>C ENSP00000324180.4:n.*571T>C
ENST00000374948.6:c.*468T>C ENSP00000364086.1:n.*468T>C
NM_001012270.1:c.*468T>C NP_001012270.1:n.*468T>C
NM_001012271.1:c.*571T>C NP_001012271.1:n.*571T>C
NM_001168.2:c.*571T>C NP_001159.2:n.*571T>C
XR_243654.3:n.1202T>C
XR_934452.1:n.1271T>C
XR_243654.5:n.1202T>C
XR_934452.3:n.1271T>C
NM_001168.3:c.*571T>C MANE Select NP_001159.2:n.*571T>C
NM_001012270.2:c.*468T>C NP_001012270.1:n.*468T>C
NM_001012271.2:c.*571T>C NP_001012271.1:n.*571T>C
Search 100 bp 5'
Search 100 bp 3'