Canonical Allele Identifier: CA5716428
Gene: BAG3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2188449
ClinVar RCV Id: RCV002620235
dbSNP Id: rs748451757
COSMIC: COSM915383

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.119672622C>T , CM000672.2:g.119672622C>T GRCh38
NC_000010.10:g.121432134C>T , CM000672.1:g.121432134C>T GRCh37
NC_000010.9:g.121422124C>T NCBI36
NG_016125.1:g.26253C>T , LRG_742:g.26253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369085.8:c.875C>T MANE Select ENSP00000358081.4:p.Pro292Leu
ENST00000369085.7:c.875C>T ENSP00000358081.3:p.Pro292Leu
ENST00000450186.1:c.701C>T ENSP00000410036.1:p.Pro234Leu
NM_004281.3:c.875C>T , LRG_742t1:c.875C>T NP_004272.2:p.Pro292Leu
XM_005270287.1:c.875C>T XP_005270344.1:p.Pro292Leu
XM_005270287.2:c.875C>T XP_005270344.1:p.Pro292Leu
NM_004281.4:c.875C>T MANE Select NP_004272.2:p.Pro292Leu