Canonical Allele Identifier: CA4306380
Community Standard Title: NM_001540.5(HSPB1):c.403T>G (p.Ser135Ala)
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303840T>G , CM000669.2:g.76303840T>G GRCh38
NC_000007.13:g.75933157T>G , CM000669.1:g.75933157T>G GRCh37
NC_000007.12:g.75771093T>G NCBI36
NG_008995.1:g.6283T>G , LRG_248:g.6283T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001540.5:c.403T>G MANE Select NP_001531.1:p.Ser135Ala
ENST00000248553.7:c.403T>G MANE Select ENSP00000248553.6:p.Ser135Ala
NM_001540.3:c.403T>G , LRG_248t1:c.403T>G NP_001531.1:p.Ser135Ala
NM_001540.4:c.403T>G NP_001531.1:p.Ser135Ala
ENST00000248553.6:c.403T>G ENSP00000248553.6:p.Ser135Ala
ENST00000429938.1:c.-102T>G ENSP00000405285.1:n.-102T>G
ENST00000447574.1:c.*567T>G ENSP00000414357.1:n.*567T>G
ENST00000674547.1:c.403T>G ENSP00000502461.1:p.Ser135Ala
ENST00000674638.1:c.398T>G ENSP00000502651.1:p.Leu133Arg
ENST00000674650.1:c.365-144T>G ENSP00000501628.1:n.365-144T>G
ENST00000674965.1:c.*59T>G ENSP00000501765.1:n.*59T>G
ENST00000675134.1:c.403T>G ENSP00000501831.1:p.Ser135Ala
ENST00000675226.1:c.402T>G ENSP00000502510.1:p.Ser134=
ENST00000675417.1:n.636T>G
ENST00000675538.1:c.438T>G ENSP00000502495.1:p.Ser146=
ENST00000675906.1:c.403T>G ENSP00000502714.1:p.Ser135Ala
ENST00000676195.1:n.119T>G
ENST00000676231.1:c.433T>G ENSP00000502249.1:p.Ser145Ala