Canonical Allele Identifier: CA254190
Gene: HSPB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7482
ClinVar RCV Id: RCV000007910
dbSNP Id: rs28939681

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303843C>T , CM000669.2:g.76303843C>T GRCh38
NC_000007.13:g.75933160C>T , CM000669.1:g.75933160C>T GRCh37
NC_000007.12:g.75771096C>T NCBI36
NG_008995.1:g.6286C>T , LRG_248:g.6286C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248553.7:c.406C>T MANE Select ENSP00000248553.6:p.Arg136Trp
ENST00000674547.1:c.406C>T ENSP00000502461.1:p.Arg136Trp
ENST00000674638.1:c.401C>T ENSP00000502651.1:p.Pro134Leu
ENST00000674650.1:c.365-141C>T ENSP00000501628.1:p.=
ENST00000674965.1:c.*62C>T ENSP00000501765.1:p.=
ENST00000675134.1:c.406C>T ENSP00000501831.1:p.Arg136Trp
ENST00000675226.1:c.405C>T ENSP00000502510.1:p.Pro135=
ENST00000675417.1:n.639C>T
ENST00000675538.1:c.441C>T ENSP00000502495.1:p.Pro147=
ENST00000675906.1:c.406C>T ENSP00000502714.1:p.Arg136Trp
ENST00000676195.1:n.122C>T
ENST00000676231.1:c.436C>T ENSP00000502249.1:p.Arg146Trp
ENST00000248553.6:c.406C>T ENSP00000248553.6:p.Arg136Trp
ENST00000429938.1:c.-99C>T ENSP00000405285.1:p.=
ENST00000447574.1:c.*570C>T ENSP00000414357.1:p.=
NM_001540.3:c.406C>T , LRG_248t1:c.406C>T NP_001531.1:p.Arg136Trp
NM_001540.4:c.406C>T NP_001531.1:p.Arg136Trp
NM_001540.5:c.406C>T MANE Select NP_001531.1:p.Arg136Trp