Canonical Allele Identifier: CA4306314

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 447529
• ClinVar RCV Id: RCV000518370 ; RCV000727252 ; RCV001051779 ; RCV001162476 ; RCV002455992 ; RCV001172559
• dbSNP Id: rs753061670
• ExAC: 7:75932399 C / G
• gnomAD v2: 7-75932399-C-G
• gnomAD v3: 7-76303082-C-G
• gnomAD v4: 7-76303082-C-G
• MyVariant Identifiers: chr7:g.75932399C>G (hg19) ; chr7:g.76303082C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303082C>G , CM000669.2:g.76303082C>G	GRCh38
NC_000007.13:g.75932399C>G , CM000669.1:g.75932399C>G	GRCh37
NC_000007.12:g.75770335C>G	NCBI36
NG_008995.1:g.5525C>G , LRG_248:g.5525C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.364+6C>G MANE Select	ENSP00000248553.6:n.364+6C>G
ENST00000674547.1:c.364+6C>G	ENSP00000502461.1:n.364+6C>G
ENST00000674560.1:n.404+6C>G
ENST00000674638.1:c.364+6C>G	ENSP00000502651.1:n.364+6C>G
ENST00000674650.1:c.364+6C>G	ENSP00000501628.1:n.364+6C>G
ENST00000674965.1:c.364+6C>G	ENSP00000501765.1:n.364+6C>G
ENST00000675134.1:c.364+6C>G	ENSP00000501831.1:n.364+6C>G
ENST00000675226.1:c.368+2C>G	ENSP00000502510.1:n.368+2C>G
ENST00000675488.1:n.404+6C>G
ENST00000675538.1:c.370C>G	ENSP00000502495.1:p.Pro124Ala
ENST00000675624.1:n.404+6C>G
ENST00000675733.1:n.404+6C>G
ENST00000675906.1:c.364+6C>G	ENSP00000502714.1:n.364+6C>G
ENST00000676231.1:c.364+6C>G	ENSP00000502249.1:n.364+6C>G
ENST00000676398.1:n.404+6C>G
ENST00000248553.6:c.364+6C>G	ENSP00000248553.6:n.364+6C>G
ENST00000447574.1:c.370C>G	ENSP00000414357.1:p.Pro124Ala
NM_001540.3:c.364+6C>G , LRG_248t1:c.364+6C>G	NP_001531.1:n.364+6C>G
NM_001540.4:c.364+6C>G	NP_001531.1:n.364+6C>G
NM_001540.5:c.364+6C>G MANE Select	NP_001531.1:n.364+6C>G