Canonical Allele Identifier: CA1718330804
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303807C= , CM000669.2:g.76303807C= GRCh38
NC_000007.13:g.75933124C= , CM000669.1:g.75933124C= GRCh37
NC_000007.12:g.75771060C= NCBI36
NG_008995.1:g.6250C= , LRG_248:g.6250C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.370C= MANE Select ENSP00000248553.6:p.His124=
ENST00000674547.1:c.370C= ENSP00000502461.1:p.His124=
ENST00000674638.1:c.365C= ENSP00000502651.1:p.Ala122=
ENST00000674650.1:c.365-177C= ENSP00000501628.1:n.365-177C=
ENST00000674965.1:c.*26C= ENSP00000501765.1:n.*26C=
ENST00000675134.1:c.370C= ENSP00000501831.1:p.His124=
ENST00000675226.1:c.369C= ENSP00000502510.1:p.Asp123=
ENST00000675417.1:n.603C=
ENST00000675538.1:c.405C= ENSP00000502495.1:p.Ser135=
ENST00000675906.1:c.370C= ENSP00000502714.1:p.His124=
ENST00000676195.1:n.86C=
ENST00000676231.1:c.400C= ENSP00000502249.1:p.His134=
ENST00000248553.6:c.370C= ENSP00000248553.6:p.His124=
ENST00000429938.1:c.-135C= ENSP00000405285.1:n.-135C=
ENST00000447574.1:c.*534C= ENSP00000414357.1:n.*534C=
NM_001540.3:c.370C= , LRG_248t1:c.370C= NP_001531.1:p.His124=
NM_001540.4:c.370C= NP_001531.1:p.His124=
NM_001540.5:c.370C= MANE Select NP_001531.1:p.His124=