Canonical Allele Identifier: CA575786721

Gene: HSPB1

Linked Data

• dbSNP Id: rs780176441
• gnomAD v2: 7-75933085-C-G
• gnomAD v4: 7-76303768-C-G
• MyVariant Identifiers: chr7:g.75933085C>G (hg19) ; chr7:g.76303768C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303768C>G , CM000669.2:g.76303768C>G	GRCh38
NC_000007.13:g.75933085C>G , CM000669.1:g.75933085C>G	GRCh37
NC_000007.12:g.75771021C>G	NCBI36
NG_008995.1:g.6211C>G , LRG_248:g.6211C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-34C>G MANE Select	ENSP00000248553.6:n.365-34C>G
ENST00000674547.1:c.365-34C>G	ENSP00000502461.1:n.365-34C>G
ENST00000674638.1:c.365-39C>G	ENSP00000502651.1:n.365-39C>G
ENST00000674650.1:c.365-216C>G	ENSP00000501628.1:n.365-216C>G
ENST00000674965.1:c.365-9C>G	ENSP00000501765.1:n.365-9C>G
ENST00000675134.1:c.365-34C>G	ENSP00000501831.1:n.365-34C>G
ENST00000675226.1:c.369-39C>G	ENSP00000502510.1:n.369-39C>G
ENST00000675417.1:n.564C>G
ENST00000675538.1:c.400-34C>G	ENSP00000502495.1:n.400-34C>G
ENST00000675733.1:n.411C>G
ENST00000675906.1:c.365-34C>G	ENSP00000502714.1:n.365-34C>G
ENST00000676195.1:n.81-34C>G
ENST00000676231.1:c.395-34C>G	ENSP00000502249.1:n.395-34C>G
ENST00000248553.6:c.365-34C>G	ENSP00000248553.6:n.365-34C>G
ENST00000429938.1:c.-140-34C>G	ENSP00000405285.1:n.-140-34C>G
ENST00000447574.1:c.*495C>G	ENSP00000414357.1:n.*495C>G
NM_001540.3:c.365-34C>G , LRG_248t1:c.365-34C>G	NP_001531.1:n.365-34C>G
NM_001540.4:c.365-34C>G	NP_001531.1:n.365-34C>G
NM_001540.5:c.365-34C>G MANE Select	NP_001531.1:n.365-34C>G