Canonical Allele Identifier: CA4306372

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 360738
• ClinVar RCV Id: RCV000705379 ; RCV001172549 ; RCV002365422 ; RCV000678497
• dbSNP Id: rs558882005
• ExAC: 7:75933137 A / G
• gnomAD v2: 7-75933137-A-G
• gnomAD v3: 7-76303820-A-G
• gnomAD v4: 7-76303820-A-G
• MyVariant Identifiers: chr7:g.75933137A>G (hg19) ; chr7:g.76303820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303820A>G , CM000669.2:g.76303820A>G	GRCh38
NC_000007.13:g.75933137A>G , CM000669.1:g.75933137A>G	GRCh37
NC_000007.12:g.75771073A>G	NCBI36
NG_008995.1:g.6263A>G , LRG_248:g.6263A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.383A>G MANE Select	ENSP00000248553.6:p.Gln128Arg
ENST00000674547.1:c.383A>G	ENSP00000502461.1:p.Gln128Arg
ENST00000674638.1:c.378A>G	ENSP00000502651.1:p.Ala126=
ENST00000674650.1:c.365-164A>G	ENSP00000501628.1:n.365-164A>G
ENST00000674965.1:c.*39A>G	ENSP00000501765.1:n.*39A>G
ENST00000675134.1:c.383A>G	ENSP00000501831.1:p.Gln128Arg
ENST00000675226.1:c.382A>G	ENSP00000502510.1:p.Arg128Gly
ENST00000675417.1:n.616A>G
ENST00000675538.1:c.418A>G	ENSP00000502495.1:p.Arg140Gly
ENST00000675906.1:c.383A>G	ENSP00000502714.1:p.Gln128Arg
ENST00000676195.1:n.99A>G
ENST00000676231.1:c.413A>G	ENSP00000502249.1:p.Gln138Arg
ENST00000248553.6:c.383A>G	ENSP00000248553.6:p.Gln128Arg
ENST00000429938.1:c.-122A>G	ENSP00000405285.1:n.-122A>G
ENST00000447574.1:c.*547A>G	ENSP00000414357.1:n.*547A>G
NM_001540.3:c.383A>G , LRG_248t1:c.383A>G	NP_001531.1:p.Gln128Arg
NM_001540.4:c.383A>G	NP_001531.1:p.Gln128Arg
NM_001540.5:c.383A>G MANE Select	NP_001531.1:p.Gln128Arg