Canonical Allele Identifier: CA367765535

Gene: HSPB1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303852A>G , CM000669.2:g.76303852A>G	GRCh38
NC_000007.13:g.75933169A>G , CM000669.1:g.75933169A>G	GRCh37
NC_000007.12:g.75771105A>G	NCBI36
NG_008995.1:g.6295A>G , LRG_248:g.6295A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001540.5:c.415A>G MANE Select	NP_001531.1:p.Thr139Ala
ENST00000248553.7:c.415A>G MANE Select	ENSP00000248553.6:p.Thr139Ala
NM_001540.3:c.415A>G , LRG_248t1:c.415A>G	NP_001531.1:p.Thr139Ala
NM_001540.4:c.415A>G	NP_001531.1:p.Thr139Ala
ENST00000248553.6:c.415A>G	ENSP00000248553.6:p.Thr139Ala
ENST00000429938.1:c.-90A>G	ENSP00000405285.1:n.-90A>G
ENST00000447574.1:c.*579A>G	ENSP00000414357.1:n.*579A>G
ENST00000674547.1:c.415A>G	ENSP00000502461.1:p.Thr139Ala
ENST00000674638.1:c.410A>G	ENSP00000502651.1:p.His137Arg
ENST00000674650.1:c.365-132A>G	ENSP00000501628.1:n.365-132A>G
ENST00000674965.1:c.*71A>G	ENSP00000501765.1:n.*71A>G
ENST00000675134.1:c.407+8A>G	ENSP00000501831.1:n.407+8A>G
ENST00000675226.1:c.414A>G	ENSP00000502510.1:p.Ser138=
ENST00000675417.1:n.648A>G
ENST00000675538.1:c.450A>G	ENSP00000502495.1:p.Ser150=
ENST00000675906.1:c.415A>G	ENSP00000502714.1:p.Thr139Ala
ENST00000676195.1:n.131A>G
ENST00000676231.1:c.445A>G	ENSP00000502249.1:p.Thr149Ala