Canonical Allele Identifier: CA1718330951
Community Standard Title: NM_001540.5(HSPB1):c.416C= (p.Thr139=)
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303853C= , CM000669.2:g.76303853C= GRCh38
NC_000007.13:g.75933170C= , CM000669.1:g.75933170C= GRCh37
NC_000007.12:g.75771106C= NCBI36
NG_008995.1:g.6296C= , LRG_248:g.6296C=

Transcript Alleles

HGVS Amino-acid Change
NM_001540.5:c.416C= MANE Select NP_001531.1:p.Thr139=
ENST00000248553.7:c.416C= MANE Select ENSP00000248553.6:p.Thr139=
NM_001540.3:c.416C= , LRG_248t1:c.416C= NP_001531.1:p.Thr139=
NM_001540.4:c.416C= NP_001531.1:p.Thr139=
ENST00000248553.6:c.416C= ENSP00000248553.6:p.Thr139=
ENST00000429938.1:c.-89C= ENSP00000405285.1:n.-89C=
ENST00000447574.1:c.*580C= ENSP00000414357.1:n.*580C=
ENST00000674547.1:c.416C= ENSP00000502461.1:p.Thr139=
ENST00000674638.1:c.411C= ENSP00000502651.1:p.His137=
ENST00000674650.1:c.365-131C= ENSP00000501628.1:n.365-131C=
ENST00000674965.1:c.*72C= ENSP00000501765.1:n.*72C=
ENST00000675134.1:c.407+9C= ENSP00000501831.1:n.407+9C=
ENST00000675226.1:c.415C= ENSP00000502510.1:p.Arg139=
ENST00000675417.1:n.649C=
ENST00000675538.1:c.451C= ENSP00000502495.1:p.Arg151=
ENST00000675906.1:c.416C= ENSP00000502714.1:p.Thr139=
ENST00000676195.1:n.132C=
ENST00000676231.1:c.446C= ENSP00000502249.1:p.Thr149=