Canonical Allele Identifier: CA4306366
Gene: HSPB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 465273
dbSNP Id: rs145243219
gnomAD v2: 7-75933126-C-G
gnomAD v3: 7-76303809-C-G
gnomAD v4: 7-76303809-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303809C>G , CM000669.2:g.76303809C>G GRCh38
NC_000007.13:g.75933126C>G , CM000669.1:g.75933126C>G GRCh37
NC_000007.12:g.75771062C>G NCBI36
NG_008995.1:g.6252C>G , LRG_248:g.6252C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.372C>G MANE Select ENSP00000248553.6:p.His124Gln
ENST00000674547.1:c.372C>G ENSP00000502461.1:p.His124Gln
ENST00000674638.1:c.367C>G ENSP00000502651.1:p.Arg123Gly
ENST00000674650.1:c.365-175C>G ENSP00000501628.1:n.365-175C>G
ENST00000674965.1:c.*28C>G ENSP00000501765.1:n.*28C>G
ENST00000675134.1:c.372C>G ENSP00000501831.1:p.His124Gln
ENST00000675226.1:c.371C>G ENSP00000502510.1:p.Thr124Arg
ENST00000675417.1:n.605C>G
ENST00000675538.1:c.407C>G ENSP00000502495.1:p.Thr136Arg
ENST00000675906.1:c.372C>G ENSP00000502714.1:p.His124Gln
ENST00000676195.1:n.88C>G
ENST00000676231.1:c.402C>G ENSP00000502249.1:p.His134Gln
ENST00000248553.6:c.372C>G ENSP00000248553.6:p.His124Gln
ENST00000429938.1:c.-133C>G ENSP00000405285.1:n.-133C>G
ENST00000447574.1:c.*536C>G ENSP00000414357.1:n.*536C>G
NM_001540.3:c.372C>G , LRG_248t1:c.372C>G NP_001531.1:p.His124Gln
NM_001540.4:c.372C>G NP_001531.1:p.His124Gln
NM_001540.5:c.372C>G MANE Select NP_001531.1:p.His124Gln