Canonical Allele Identifier: CA10626442
Gene: HSPB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 360737
dbSNP Id: rs11547168
gnomAD v2: 7-75932245-C-T
gnomAD v3: 7-76302928-C-T
gnomAD v4: 7-76302928-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76302928C>T , CM000669.2:g.76302928C>T GRCh38
NC_000007.13:g.75932245C>T , CM000669.1:g.75932245C>T GRCh37
NC_000007.12:g.75770181C>T NCBI36
NG_008995.1:g.5371C>T , LRG_248:g.5371C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.216C>T MANE Select ENSP00000248553.6:p.Ala72=
ENST00000674547.1:c.216C>T ENSP00000502461.1:p.Ala72=
ENST00000674560.1:n.256C>T
ENST00000674638.1:c.216C>T ENSP00000502651.1:p.Ala72=
ENST00000674650.1:c.216C>T ENSP00000501628.1:p.Ala72=
ENST00000674965.1:c.216C>T ENSP00000501765.1:p.Ala72=
ENST00000675134.1:c.216C>T ENSP00000501831.1:p.Ala72=
ENST00000675226.1:c.216C>T ENSP00000502510.1:p.Ala72=
ENST00000675488.1:n.256C>T
ENST00000675538.1:c.216C>T ENSP00000502495.1:p.Ala72=
ENST00000675624.1:n.256C>T
ENST00000675733.1:n.256C>T
ENST00000675906.1:c.216C>T ENSP00000502714.1:p.Ala72=
ENST00000676231.1:c.216C>T ENSP00000502249.1:p.Ala72=
ENST00000676398.1:n.256C>T
ENST00000248553.6:c.216C>T ENSP00000248553.6:p.Ala72=
ENST00000447574.1:c.216C>T ENSP00000414357.1:p.Ala72=
NM_001540.3:c.216C>T , LRG_248t1:c.216C>T NP_001531.1:p.Ala72=
NM_001540.4:c.216C>T NP_001531.1:p.Ala72=
NM_001540.5:c.216C>T MANE Select NP_001531.1:p.Ala72=