Canonical Allele Identifier: CA367765387

Gene: HSPB1

Linked Data

• dbSNP Id: rs2117161181
• MyVariant Identifiers: chr7:g.75933143A>G (hg19) ; chr7:g.76303826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303826A>G , CM000669.2:g.76303826A>G	GRCh38
NC_000007.13:g.75933143A>G , CM000669.1:g.75933143A>G	GRCh37
NC_000007.12:g.75771079A>G	NCBI36
NG_008995.1:g.6269A>G , LRG_248:g.6269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.389A>G MANE Select	ENSP00000248553.6:p.Glu130Gly
ENST00000674547.1:c.389A>G	ENSP00000502461.1:p.Glu130Gly
ENST00000674638.1:c.384A>G	ENSP00000502651.1:p.Arg128=
ENST00000674650.1:c.365-158A>G	ENSP00000501628.1:n.365-158A>G
ENST00000674965.1:c.*45A>G	ENSP00000501765.1:n.*45A>G
ENST00000675134.1:c.389A>G	ENSP00000501831.1:p.Glu130Gly
ENST00000675226.1:c.388A>G	ENSP00000502510.1:p.Ser130Gly
ENST00000675417.1:n.622A>G
ENST00000675538.1:c.424A>G	ENSP00000502495.1:p.Ser142Gly
ENST00000675906.1:c.389A>G	ENSP00000502714.1:p.Glu130Gly
ENST00000676195.1:n.105A>G
ENST00000676231.1:c.419A>G	ENSP00000502249.1:p.Glu140Gly
ENST00000248553.6:c.389A>G	ENSP00000248553.6:p.Glu130Gly
ENST00000429938.1:c.-116A>G	ENSP00000405285.1:n.-116A>G
ENST00000447574.1:c.*553A>G	ENSP00000414357.1:n.*553A>G
NM_001540.3:c.389A>G , LRG_248t1:c.389A>G	NP_001531.1:p.Glu130Gly
NM_001540.4:c.389A>G	NP_001531.1:p.Glu130Gly
NM_001540.5:c.389A>G MANE Select	NP_001531.1:p.Glu130Gly