Canonical Allele Identifier: CA2683407942

Gene: HSPB1

Linked Data

• gnomAD v4: 7-76303681-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303681C>A , CM000669.2:g.76303681C>A	GRCh38
NC_000007.13:g.75932998C>A , CM000669.1:g.75932998C>A	GRCh37
NC_000007.12:g.75770934C>A	NCBI36
NG_008995.1:g.6124C>A , LRG_248:g.6124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-121C>A MANE Select	ENSP00000248553.6:n.365-121C>A
ENST00000674547.1:c.365-121C>A	ENSP00000502461.1:n.365-121C>A
ENST00000674638.1:c.365-126C>A	ENSP00000502651.1:n.365-126C>A
ENST00000674650.1:c.365-303C>A	ENSP00000501628.1:n.365-303C>A
ENST00000674965.1:c.365-96C>A	ENSP00000501765.1:n.365-96C>A
ENST00000675134.1:c.365-121C>A	ENSP00000501831.1:n.365-121C>A
ENST00000675226.1:c.369-126C>A	ENSP00000502510.1:n.369-126C>A
ENST00000675417.1:n.477C>A
ENST00000675538.1:c.400-121C>A	ENSP00000502495.1:n.400-121C>A
ENST00000675733.1:n.405-81C>A
ENST00000675906.1:c.365-121C>A	ENSP00000502714.1:n.365-121C>A
ENST00000676195.1:n.80+25C>A
ENST00000676231.1:c.365-17C>A	ENSP00000502249.1:n.365-17C>A
ENST00000248553.6:c.365-121C>A	ENSP00000248553.6:n.365-121C>A
ENST00000429938.1:c.-187C>A	ENSP00000405285.1:n.-187C>A
ENST00000447574.1:c.*408C>A	ENSP00000414357.1:n.*408C>A
NM_001540.3:c.365-121C>A , LRG_248t1:c.365-121C>A	NP_001531.1:n.365-121C>A
NM_001540.4:c.365-121C>A	NP_001531.1:n.365-121C>A
NM_001540.5:c.365-121C>A MANE Select	NP_001531.1:n.365-121C>A