Canonical Allele Identifier: CA4306358

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 533816
• ClinVar RCV Id: RCV000641081 ; RCV000857185 ; RCV001164521 ; RCV001172547
• dbSNP Id: rs200902768
• ExAC: 7:75933113 C / G
• gnomAD v2: 7-75933113-C-G
• gnomAD v3: 7-76303796-C-G
• gnomAD v4: 7-76303796-C-G
• MyVariant Identifiers: chr7:g.75933113C>G (hg19) ; chr7:g.75933113_75933115delinsGCA (hg19) ; chr7:g.76303796C>G (hg38) ; chr7:g.76303796_76303798delinsGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303796C>G , CM000669.2:g.76303796C>G	GRCh38
NC_000007.13:g.75933113C>G , CM000669.1:g.75933113C>G	GRCh37
NC_000007.12:g.75771049C>G	NCBI36
NG_008995.1:g.6239C>G , LRG_248:g.6239C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-6C>G MANE Select	ENSP00000248553.6:n.365-6C>G
ENST00000674547.1:c.365-6C>G	ENSP00000502461.1:n.365-6C>G
ENST00000674638.1:c.365-11C>G	ENSP00000502651.1:n.365-11C>G
ENST00000674650.1:c.365-188C>G	ENSP00000501628.1:n.365-188C>G
ENST00000674965.1:c.*15C>G	ENSP00000501765.1:n.*15C>G
ENST00000675134.1:c.365-6C>G	ENSP00000501831.1:n.365-6C>G
ENST00000675226.1:c.369-11C>G	ENSP00000502510.1:n.369-11C>G
ENST00000675417.1:n.592C>G
ENST00000675538.1:c.400-6C>G	ENSP00000502495.1:n.400-6C>G
ENST00000675906.1:c.365-6C>G	ENSP00000502714.1:n.365-6C>G
ENST00000676195.1:n.81-6C>G
ENST00000676231.1:c.395-6C>G	ENSP00000502249.1:n.395-6C>G
ENST00000248553.6:c.365-6C>G	ENSP00000248553.6:n.365-6C>G
ENST00000429938.1:c.-140-6C>G	ENSP00000405285.1:n.-140-6C>G
ENST00000447574.1:c.*523C>G	ENSP00000414357.1:n.*523C>G
NM_001540.3:c.365-6C>G , LRG_248t1:c.365-6C>G	NP_001531.1:n.365-6C>G
NM_001540.4:c.365-6C>G	NP_001531.1:n.365-6C>G
NM_001540.5:c.365-6C>G MANE Select	NP_001531.1:n.365-6C>G