Canonical Allele Identifier: CA575786716

Gene: HSPB1

Linked Data

• dbSNP Id: rs1207236629
• gnomAD v2: 7-75933055-T-G
• gnomAD v3: 7-76303738-T-G
• gnomAD v4: 7-76303738-T-G
• MyVariant Identifiers: chr7:g.75933055T>G (hg19) ; chr7:g.76303738T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303738T>G , CM000669.2:g.76303738T>G	GRCh38
NC_000007.13:g.75933055T>G , CM000669.1:g.75933055T>G	GRCh37
NC_000007.12:g.75770991T>G	NCBI36
NG_008995.1:g.6181T>G , LRG_248:g.6181T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.365-64T>G MANE Select	ENSP00000248553.6:n.365-64T>G
ENST00000674547.1:c.365-64T>G	ENSP00000502461.1:n.365-64T>G
ENST00000674638.1:c.365-69T>G	ENSP00000502651.1:n.365-69T>G
ENST00000674650.1:c.365-246T>G	ENSP00000501628.1:n.365-246T>G
ENST00000674965.1:c.365-39T>G	ENSP00000501765.1:n.365-39T>G
ENST00000675134.1:c.365-64T>G	ENSP00000501831.1:n.365-64T>G
ENST00000675226.1:c.369-69T>G	ENSP00000502510.1:n.369-69T>G
ENST00000675417.1:n.534T>G
ENST00000675538.1:c.400-64T>G	ENSP00000502495.1:n.400-64T>G
ENST00000675733.1:n.405-24T>G
ENST00000675906.1:c.365-64T>G	ENSP00000502714.1:n.365-64T>G
ENST00000676195.1:n.81-64T>G
ENST00000676231.1:c.394+11T>G	ENSP00000502249.1:n.394+11T>G
ENST00000248553.6:c.365-64T>G	ENSP00000248553.6:n.365-64T>G
ENST00000429938.1:c.-141+11T>G	ENSP00000405285.1:n.-141+11T>G
ENST00000447574.1:c.*465T>G	ENSP00000414357.1:n.*465T>G
NM_001540.3:c.365-64T>G , LRG_248t1:c.365-64T>G	NP_001531.1:n.365-64T>G
NM_001540.4:c.365-64T>G	NP_001531.1:n.365-64T>G
NM_001540.5:c.365-64T>G MANE Select	NP_001531.1:n.365-64T>G