Canonical Allele Identifier: CA367765566
Gene: HSPB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303859A>C , CM000669.2:g.76303859A>C GRCh38
NC_000007.13:g.75933176A>C , CM000669.1:g.75933176A>C GRCh37
NC_000007.12:g.75771112A>C NCBI36
NG_008995.1:g.6302A>C , LRG_248:g.6302A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.422A>C MANE Select ENSP00000248553.6:p.Lys141Thr
ENST00000674547.1:c.422A>C ENSP00000502461.1:p.Lys141Thr
ENST00000674638.1:c.417A>C ENSP00000502651.1:p.Glu139Asp
ENST00000674650.1:c.365-125A>C ENSP00000501628.1:n.365-125A>C
ENST00000674965.1:c.*78A>C ENSP00000501765.1:n.*78A>C
ENST00000675134.1:c.407+15A>C ENSP00000501831.1:n.407+15A>C
ENST00000675226.1:c.421A>C ENSP00000502510.1:p.Asn141His
ENST00000675417.1:n.655A>C
ENST00000675538.1:c.457A>C ENSP00000502495.1:p.Asn153His
ENST00000675906.1:c.422A>C ENSP00000502714.1:p.Lys141Thr
ENST00000676195.1:n.138A>C
ENST00000676231.1:c.452A>C ENSP00000502249.1:p.Lys151Thr
ENST00000248553.6:c.422A>C ENSP00000248553.6:p.Lys141Thr
ENST00000429938.1:c.-83A>C ENSP00000405285.1:n.-83A>C
ENST00000447574.1:c.*586A>C ENSP00000414357.1:n.*586A>C
NM_001540.3:c.422A>C , LRG_248t1:c.422A>C NP_001531.1:p.Lys141Thr
NM_001540.4:c.422A>C NP_001531.1:p.Lys141Thr
NM_001540.5:c.422A>C MANE Select NP_001531.1:p.Lys141Thr