Canonical Allele Identifier: CA118831

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 7484
• ClinVar RCV Id: RCV000007912 ; RCV000688660 ; RCV001174175 ; RCV001508210 ; RCV001794438 ; RCV002326670
• dbSNP Id: rs121909112
• gnomAD v4: 7-76303855-C-G
• MyVariant Identifiers: chr7:g.75933172C>G (hg19) ; chr7:g.76303855C>G (hg38)
• PubMed: PMID:18832141

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303855C>G , CM000669.2:g.76303855C>G	GRCh38
NC_000007.13:g.75933172C>G , CM000669.1:g.75933172C>G	GRCh37
NC_000007.12:g.75771108C>G	NCBI36
NG_008995.1:g.6298C>G , LRG_248:g.6298C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.418C>G MANE Select	ENSP00000248553.6:p.Arg140Gly
ENST00000674547.1:c.418C>G	ENSP00000502461.1:p.Arg140Gly
ENST00000674638.1:c.413C>G	ENSP00000502651.1:p.Ala138Gly
ENST00000674650.1:c.365-129C>G	ENSP00000501628.1:n.365-129C>G
ENST00000674965.1:c.*74C>G	ENSP00000501765.1:n.*74C>G
ENST00000675134.1:c.407+11C>G	ENSP00000501831.1:n.407+11C>G
ENST00000675226.1:c.417C>G	ENSP00000502510.1:p.Arg139=
ENST00000675417.1:n.651C>G
ENST00000675538.1:c.453C>G	ENSP00000502495.1:p.Arg151=
ENST00000675906.1:c.418C>G	ENSP00000502714.1:p.Arg140Gly
ENST00000676195.1:n.134C>G
ENST00000676231.1:c.448C>G	ENSP00000502249.1:p.Arg150Gly
ENST00000248553.6:c.418C>G	ENSP00000248553.6:p.Arg140Gly
ENST00000429938.1:c.-87C>G	ENSP00000405285.1:n.-87C>G
ENST00000447574.1:c.*582C>G	ENSP00000414357.1:n.*582C>G
NM_001540.3:c.418C>G , LRG_248t1:c.418C>G	NP_001531.1:p.Arg140Gly
NM_001540.4:c.418C>G	NP_001531.1:p.Arg140Gly
NM_001540.5:c.418C>G MANE Select	NP_001531.1:p.Arg140Gly