Canonical Allele Identifier: CA367765412

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303830-T-A
• MyVariant Identifiers: chr7:g.75933147T>A (hg19) ; chr7:g.76303830T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303830T>A , CM000669.2:g.76303830T>A	GRCh38
NC_000007.13:g.75933147T>A , CM000669.1:g.75933147T>A	GRCh37
NC_000007.12:g.75771083T>A	NCBI36
NG_008995.1:g.6273T>A , LRG_248:g.6273T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.393T>A MANE Select	ENSP00000248553.6:p.His131Gln
ENST00000674547.1:c.393T>A	ENSP00000502461.1:p.His131Gln
ENST00000674638.1:c.388T>A	ENSP00000502651.1:p.Trp130Arg
ENST00000674650.1:c.365-154T>A	ENSP00000501628.1:n.365-154T>A
ENST00000674965.1:c.*49T>A	ENSP00000501765.1:n.*49T>A
ENST00000675134.1:c.393T>A	ENSP00000501831.1:p.His131Gln
ENST00000675226.1:c.392T>A	ENSP00000502510.1:p.Met131Lys
ENST00000675417.1:n.626T>A
ENST00000675538.1:c.428T>A	ENSP00000502495.1:p.Met143Lys
ENST00000675906.1:c.393T>A	ENSP00000502714.1:p.His131Gln
ENST00000676195.1:n.109T>A
ENST00000676231.1:c.423T>A	ENSP00000502249.1:p.His141Gln
ENST00000248553.6:c.393T>A	ENSP00000248553.6:p.His131Gln
ENST00000429938.1:c.-112T>A	ENSP00000405285.1:n.-112T>A
ENST00000447574.1:c.*557T>A	ENSP00000414357.1:n.*557T>A
NM_001540.3:c.393T>A , LRG_248t1:c.393T>A	NP_001531.1:p.His131Gln
NM_001540.4:c.393T>A	NP_001531.1:p.His131Gln
NM_001540.5:c.393T>A MANE Select	NP_001531.1:p.His131Gln