Canonical Allele Identifier: CA367766428

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933429A>G (hg19) ; chr7:g.76304112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304112A>G , CM000669.2:g.76304112A>G	GRCh38
NC_000007.13:g.75933429A>G , CM000669.1:g.75933429A>G	GRCh37
NC_000007.12:g.75771365A>G	NCBI36
NG_008995.1:g.6555A>G , LRG_248:g.6555A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.557A>G MANE Select	ENSP00000248553.6:p.Glu186Gly
ENST00000674547.1:c.*148A>G	ENSP00000502461.1:n.*148A>G
ENST00000674638.1:c.*78A>G	ENSP00000502651.1:n.*78A>G
ENST00000674650.1:c.*67A>G	ENSP00000501628.1:n.*67A>G
ENST00000674965.1:c.*213A>G	ENSP00000501765.1:n.*213A>G
ENST00000675134.1:c.536A>G	ENSP00000501831.1:p.Glu179Gly
ENST00000675226.1:c.*67A>G	ENSP00000502510.1:n.*67A>G
ENST00000675417.1:n.908A>G
ENST00000675538.1:c.*67A>G	ENSP00000502495.1:n.*67A>G
ENST00000675906.1:c.*142A>G	ENSP00000502714.1:n.*142A>G
ENST00000676231.1:c.587A>G	ENSP00000502249.1:p.Glu196Gly
ENST00000248553.6:c.557A>G	ENSP00000248553.6:p.Glu186Gly
ENST00000429938.1:c.53A>G	ENSP00000405285.1:p.Glu18Gly
ENST00000447574.1:c.*721A>G	ENSP00000414357.1:n.*721A>G
NM_001540.3:c.557A>G , LRG_248t1:c.557A>G	NP_001531.1:p.Glu186Gly
NM_001540.4:c.557A>G	NP_001531.1:p.Glu186Gly
NM_001540.5:c.557A>G MANE Select	NP_001531.1:p.Glu186Gly