Canonical Allele Identifier: CA2683408065

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303712-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303712T>A , CM000669.2:g.76303712T>A	GRCh38
NC_000007.13:g.75933029T>A , CM000669.1:g.75933029T>A	GRCh37
NC_000007.12:g.75770965T>A	NCBI36
NG_008995.1:g.6155T>A , LRG_248:g.6155T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-90T>A MANE Select	ENSP00000248553.6:n.365-90T>A
ENST00000674547.1:c.365-90T>A	ENSP00000502461.1:n.365-90T>A
ENST00000674638.1:c.365-95T>A	ENSP00000502651.1:n.365-95T>A
ENST00000674650.1:c.365-272T>A	ENSP00000501628.1:n.365-272T>A
ENST00000674965.1:c.365-65T>A	ENSP00000501765.1:n.365-65T>A
ENST00000675134.1:c.365-90T>A	ENSP00000501831.1:n.365-90T>A
ENST00000675226.1:c.369-95T>A	ENSP00000502510.1:n.369-95T>A
ENST00000675417.1:n.508T>A
ENST00000675538.1:c.400-90T>A	ENSP00000502495.1:n.400-90T>A
ENST00000675733.1:n.405-50T>A
ENST00000675906.1:c.365-90T>A	ENSP00000502714.1:n.365-90T>A
ENST00000676195.1:n.80+56T>A
ENST00000676231.1:c.379T>A	ENSP00000502249.1:p.Cys127Ser
ENST00000248553.6:c.365-90T>A	ENSP00000248553.6:n.365-90T>A
ENST00000429938.1:c.-156T>A	ENSP00000405285.1:n.-156T>A
ENST00000447574.1:c.*439T>A	ENSP00000414357.1:n.*439T>A
NM_001540.3:c.365-90T>A , LRG_248t1:c.365-90T>A	NP_001531.1:n.365-90T>A
NM_001540.4:c.365-90T>A	NP_001531.1:n.365-90T>A
NM_001540.5:c.365-90T>A MANE Select	NP_001531.1:n.365-90T>A