Canonical Allele Identifier: CA367765269

Gene: HSPB1

Linked Data

• dbSNP Id: rs1281150296
• gnomAD v2: 7-75933121-A-G
• gnomAD v4: 7-76303804-A-G
• MyVariant Identifiers: chr7:g.75933121A>G (hg19) ; chr7:g.76303804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303804A>G , CM000669.2:g.76303804A>G	GRCh38
NC_000007.13:g.75933121A>G , CM000669.1:g.75933121A>G	GRCh37
NC_000007.12:g.75771057A>G	NCBI36
NG_008995.1:g.6247A>G , LRG_248:g.6247A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.367A>G MANE Select	ENSP00000248553.6:p.Lys123Glu
ENST00000674547.1:c.367A>G	ENSP00000502461.1:p.Lys123Glu
ENST00000674638.1:c.365-3A>G	ENSP00000502651.1:n.365-3A>G
ENST00000674650.1:c.365-180A>G	ENSP00000501628.1:n.365-180A>G
ENST00000674965.1:c.*23A>G	ENSP00000501765.1:n.*23A>G
ENST00000675134.1:c.367A>G	ENSP00000501831.1:p.Lys123Glu
ENST00000675226.1:c.369-3A>G	ENSP00000502510.1:n.369-3A>G
ENST00000675417.1:n.600A>G
ENST00000675538.1:c.402A>G	ENSP00000502495.1:p.Ala134=
ENST00000675906.1:c.367A>G	ENSP00000502714.1:p.Lys123Glu
ENST00000676195.1:n.83A>G
ENST00000676231.1:c.397A>G	ENSP00000502249.1:p.Lys133Glu
ENST00000248553.6:c.367A>G	ENSP00000248553.6:p.Lys123Glu
ENST00000429938.1:c.-138A>G	ENSP00000405285.1:n.-138A>G
ENST00000447574.1:c.*531A>G	ENSP00000414357.1:n.*531A>G
NM_001540.3:c.367A>G , LRG_248t1:c.367A>G	NP_001531.1:p.Lys123Glu
NM_001540.4:c.367A>G	NP_001531.1:p.Lys123Glu
NM_001540.5:c.367A>G MANE Select	NP_001531.1:p.Lys123Glu