Canonical Allele Identifier: CA4306356

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 465272
• ClinVar RCV Id: RCV000543506 ; RCV000610624 ; RCV001172558
• dbSNP Id: rs201897299
• ExAC: 7:75933112 C / G
• gnomAD v2: 7-75933112-C-G
• gnomAD v3: 7-76303795-C-G
• gnomAD v4: 7-76303795-C-G
• MyVariant Identifiers: chr7:g.75933112C>G (hg19) ; chr7:g.76303795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303795C>G , CM000669.2:g.76303795C>G	GRCh38
NC_000007.13:g.75933112C>G , CM000669.1:g.75933112C>G	GRCh37
NC_000007.12:g.75771048C>G	NCBI36
NG_008995.1:g.6238C>G , LRG_248:g.6238C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-7C>G MANE Select	ENSP00000248553.6:n.365-7C>G
ENST00000674547.1:c.365-7C>G	ENSP00000502461.1:n.365-7C>G
ENST00000674638.1:c.365-12C>G	ENSP00000502651.1:n.365-12C>G
ENST00000674650.1:c.365-189C>G	ENSP00000501628.1:n.365-189C>G
ENST00000674965.1:c.*14C>G	ENSP00000501765.1:n.*14C>G
ENST00000675134.1:c.365-7C>G	ENSP00000501831.1:n.365-7C>G
ENST00000675226.1:c.369-12C>G	ENSP00000502510.1:n.369-12C>G
ENST00000675417.1:n.591C>G
ENST00000675538.1:c.400-7C>G	ENSP00000502495.1:n.400-7C>G
ENST00000675906.1:c.365-7C>G	ENSP00000502714.1:n.365-7C>G
ENST00000676195.1:n.81-7C>G
ENST00000676231.1:c.395-7C>G	ENSP00000502249.1:n.395-7C>G
ENST00000248553.6:c.365-7C>G	ENSP00000248553.6:n.365-7C>G
ENST00000429938.1:c.-140-7C>G	ENSP00000405285.1:n.-140-7C>G
ENST00000447574.1:c.*522C>G	ENSP00000414357.1:n.*522C>G
NM_001540.3:c.365-7C>G , LRG_248t1:c.365-7C>G	NP_001531.1:n.365-7C>G
NM_001540.4:c.365-7C>G	NP_001531.1:n.365-7C>G
NM_001540.5:c.365-7C>G MANE Select	NP_001531.1:n.365-7C>G