Canonical Allele Identifier: CA4306231
Gene: HSPB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410715
dbSNP Id: rs1049324
gnomAD v2: 7-75932045-G-A
gnomAD v3: 7-76302728-G-A
gnomAD v4: 7-76302728-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76302728G>A , CM000669.2:g.76302728G>A GRCh38
NC_000007.13:g.75932045G>A , CM000669.1:g.75932045G>A GRCh37
NC_000007.12:g.75769981G>A NCBI36
NG_008995.1:g.5171G>A , LRG_248:g.5171G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.16G>A MANE Select ENSP00000248553.6:p.Val6Ile
ENST00000674547.1:c.16G>A ENSP00000502461.1:p.Val6Ile
ENST00000674560.1:n.56G>A
ENST00000674638.1:c.16G>A ENSP00000502651.1:p.Val6Ile
ENST00000674650.1:c.16G>A ENSP00000501628.1:p.Val6Ile
ENST00000674965.1:c.16G>A ENSP00000501765.1:p.Val6Ile
ENST00000675134.1:c.16G>A ENSP00000501831.1:p.Val6Ile
ENST00000675226.1:c.16G>A ENSP00000502510.1:p.Val6Ile
ENST00000675488.1:n.56G>A
ENST00000675538.1:c.16G>A ENSP00000502495.1:p.Val6Ile
ENST00000675624.1:n.56G>A
ENST00000675733.1:n.56G>A
ENST00000675906.1:c.16G>A ENSP00000502714.1:p.Val6Ile
ENST00000676231.1:c.16G>A ENSP00000502249.1:p.Val6Ile
ENST00000676398.1:n.56G>A
ENST00000248553.6:c.16G>A ENSP00000248553.6:p.Val6Ile
ENST00000447574.1:c.16G>A ENSP00000414357.1:p.Val6Ile
NM_001540.3:c.16G>A , LRG_248t1:c.16G>A NP_001531.1:p.Val6Ile
NM_001540.4:c.16G>A NP_001531.1:p.Val6Ile
NM_001540.5:c.16G>A MANE Select NP_001531.1:p.Val6Ile