Canonical Allele Identifier: CA367765314

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933130G>A (hg19) ; chr7:g.76303813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303813G>A , CM000669.2:g.76303813G>A	GRCh38
NC_000007.13:g.75933130G>A , CM000669.1:g.75933130G>A	GRCh37
NC_000007.12:g.75771066G>A	NCBI36
NG_008995.1:g.6256G>A , LRG_248:g.6256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.376G>A MANE Select	ENSP00000248553.6:p.Glu126Lys
ENST00000674547.1:c.376G>A	ENSP00000502461.1:p.Glu126Lys
ENST00000674638.1:c.371G>A	ENSP00000502651.1:p.Gly124Glu
ENST00000674650.1:c.365-171G>A	ENSP00000501628.1:n.365-171G>A
ENST00000674965.1:c.*32G>A	ENSP00000501765.1:n.*32G>A
ENST00000675134.1:c.376G>A	ENSP00000501831.1:p.Glu126Lys
ENST00000675226.1:c.375G>A	ENSP00000502510.1:p.Arg125=
ENST00000675417.1:n.609G>A
ENST00000675538.1:c.411G>A	ENSP00000502495.1:p.Arg137=
ENST00000675906.1:c.376G>A	ENSP00000502714.1:p.Glu126Lys
ENST00000676195.1:n.92G>A
ENST00000676231.1:c.406G>A	ENSP00000502249.1:p.Glu136Lys
ENST00000248553.6:c.376G>A	ENSP00000248553.6:p.Glu126Lys
ENST00000429938.1:c.-129G>A	ENSP00000405285.1:n.-129G>A
ENST00000447574.1:c.*540G>A	ENSP00000414357.1:n.*540G>A
NM_001540.3:c.376G>A , LRG_248t1:c.376G>A	NP_001531.1:p.Glu126Lys
NM_001540.4:c.376G>A	NP_001531.1:p.Glu126Lys
NM_001540.5:c.376G>A MANE Select	NP_001531.1:p.Glu126Lys