Canonical Allele Identifier: CA367765550
Gene: HSPB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303856G>A , CM000669.2:g.76303856G>A GRCh38
NC_000007.13:g.75933173G>A , CM000669.1:g.75933173G>A GRCh37
NC_000007.12:g.75771109G>A NCBI36
NG_008995.1:g.6299G>A , LRG_248:g.6299G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248553.7:c.419G>A MANE Select ENSP00000248553.6:p.Arg140Gln
ENST00000674547.1:c.419G>A ENSP00000502461.1:p.Arg140Gln
ENST00000674638.1:c.414G>A ENSP00000502651.1:p.Ala138=
ENST00000674650.1:c.365-128G>A ENSP00000501628.1:n.365-128G>A
ENST00000674965.1:c.*75G>A ENSP00000501765.1:n.*75G>A
ENST00000675134.1:c.407+12G>A ENSP00000501831.1:n.407+12G>A
ENST00000675226.1:c.418G>A ENSP00000502510.1:p.Gly140Arg
ENST00000675417.1:n.652G>A
ENST00000675538.1:c.454G>A ENSP00000502495.1:p.Gly152Arg
ENST00000675906.1:c.419G>A ENSP00000502714.1:p.Arg140Gln
ENST00000676195.1:n.135G>A
ENST00000676231.1:c.449G>A ENSP00000502249.1:p.Arg150Gln
ENST00000248553.6:c.419G>A ENSP00000248553.6:p.Arg140Gln
ENST00000429938.1:c.-86G>A ENSP00000405285.1:n.-86G>A
ENST00000447574.1:c.*583G>A ENSP00000414357.1:n.*583G>A
NM_001540.3:c.419G>A , LRG_248t1:c.419G>A NP_001531.1:p.Arg140Gln
NM_001540.4:c.419G>A NP_001531.1:p.Arg140Gln
NM_001540.5:c.419G>A MANE Select NP_001531.1:p.Arg140Gln