Canonical Allele Identifier: CA4306304
Gene: HSPB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 653204
ClinVar RCV Id: RCV000808934
dbSNP Id: rs761660005
gnomAD v2: 7-75932315-C-A
gnomAD v3: 7-76302998-C-A
gnomAD v4: 7-76302998-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76302998C>A , CM000669.2:g.76302998C>A GRCh38
NC_000007.13:g.75932315C>A , CM000669.1:g.75932315C>A GRCh37
NC_000007.12:g.75770251C>A NCBI36
NG_008995.1:g.5441C>A , LRG_248:g.5441C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.286C>A MANE Select ENSP00000248553.6:p.Arg96Ser
ENST00000674547.1:c.286C>A ENSP00000502461.1:p.Arg96Ser
ENST00000674560.1:n.326C>A
ENST00000674638.1:c.286C>A ENSP00000502651.1:p.Arg96Ser
ENST00000674650.1:c.286C>A ENSP00000501628.1:p.Arg96Ser
ENST00000674965.1:c.286C>A ENSP00000501765.1:p.Arg96Ser
ENST00000675134.1:c.286C>A ENSP00000501831.1:p.Arg96Ser
ENST00000675226.1:c.286C>A ENSP00000502510.1:p.Arg96Ser
ENST00000675488.1:n.326C>A
ENST00000675538.1:c.286C>A ENSP00000502495.1:p.Arg96Ser
ENST00000675624.1:n.326C>A
ENST00000675733.1:n.326C>A
ENST00000675906.1:c.286C>A ENSP00000502714.1:p.Arg96Ser
ENST00000676231.1:c.286C>A ENSP00000502249.1:p.Arg96Ser
ENST00000676398.1:n.326C>A
ENST00000248553.6:c.286C>A ENSP00000248553.6:p.Arg96Ser
ENST00000447574.1:c.286C>A ENSP00000414357.1:p.Arg96Ser
NM_001540.3:c.286C>A , LRG_248t1:c.286C>A NP_001531.1:p.Arg96Ser
NM_001540.4:c.286C>A NP_001531.1:p.Arg96Ser
NM_001540.5:c.286C>A MANE Select NP_001531.1:p.Arg96Ser