Canonical Allele Identifier: CA2573142366

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 1431358
• ClinVar RCV Id: RCV001967510
• dbSNP Id: rs2117161041
• gnomAD v4: 7-76303799-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303799A>G , CM000669.2:g.76303799A>G	GRCh38
NC_000007.13:g.75933116A>G , CM000669.1:g.75933116A>G	GRCh37
NC_000007.12:g.75771052A>G	NCBI36
NG_008995.1:g.6242A>G , LRG_248:g.6242A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-3A>G MANE Select	ENSP00000248553.6:n.365-3A>G
ENST00000674547.1:c.365-3A>G	ENSP00000502461.1:n.365-3A>G
ENST00000674638.1:c.365-8A>G	ENSP00000502651.1:n.365-8A>G
ENST00000674650.1:c.365-185A>G	ENSP00000501628.1:n.365-185A>G
ENST00000674965.1:c.*18A>G	ENSP00000501765.1:n.*18A>G
ENST00000675134.1:c.365-3A>G	ENSP00000501831.1:n.365-3A>G
ENST00000675226.1:c.369-8A>G	ENSP00000502510.1:n.369-8A>G
ENST00000675417.1:n.595A>G
ENST00000675538.1:c.400-3A>G	ENSP00000502495.1:n.400-3A>G
ENST00000675906.1:c.365-3A>G	ENSP00000502714.1:n.365-3A>G
ENST00000676195.1:n.81-3A>G
ENST00000676231.1:c.395-3A>G	ENSP00000502249.1:n.395-3A>G
ENST00000248553.6:c.365-3A>G	ENSP00000248553.6:n.365-3A>G
ENST00000429938.1:c.-140-3A>G	ENSP00000405285.1:n.-140-3A>G
ENST00000447574.1:c.*526A>G	ENSP00000414357.1:n.*526A>G
NM_001540.3:c.365-3A>G , LRG_248t1:c.365-3A>G	NP_001531.1:n.365-3A>G
NM_001540.4:c.365-3A>G	NP_001531.1:n.365-3A>G
NM_001540.5:c.365-3A>G MANE Select	NP_001531.1:n.365-3A>G