Canonical Allele Identifier: CA367765439

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 660120
• ClinVar RCV Id: RCV000817252
• dbSNP Id: rs1583966042
• gnomAD v4: 7-76303835-A-G
• MyVariant Identifiers: chr7:g.75933152A>G (hg19) ; chr7:g.76303835A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303835A>G , CM000669.2:g.76303835A>G	GRCh38
NC_000007.13:g.75933152A>G , CM000669.1:g.75933152A>G	GRCh37
NC_000007.12:g.75771088A>G	NCBI36
NG_008995.1:g.6278A>G , LRG_248:g.6278A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.398A>G MANE Select	ENSP00000248553.6:p.Tyr133Cys
ENST00000674547.1:c.398A>G	ENSP00000502461.1:p.Tyr133Cys
ENST00000674638.1:c.393A>G	ENSP00000502651.1:p.Leu131=
ENST00000674650.1:c.365-149A>G	ENSP00000501628.1:n.365-149A>G
ENST00000674965.1:c.*54A>G	ENSP00000501765.1:n.*54A>G
ENST00000675134.1:c.398A>G	ENSP00000501831.1:p.Tyr133Cys
ENST00000675226.1:c.397A>G	ENSP00000502510.1:p.Thr133Ala
ENST00000675417.1:n.631A>G
ENST00000675538.1:c.433A>G	ENSP00000502495.1:p.Thr145Ala
ENST00000675906.1:c.398A>G	ENSP00000502714.1:p.Tyr133Cys
ENST00000676195.1:n.114A>G
ENST00000676231.1:c.428A>G	ENSP00000502249.1:p.Tyr143Cys
ENST00000248553.6:c.398A>G	ENSP00000248553.6:p.Tyr133Cys
ENST00000429938.1:c.-107A>G	ENSP00000405285.1:n.-107A>G
ENST00000447574.1:c.*562A>G	ENSP00000414357.1:n.*562A>G
NM_001540.3:c.398A>G , LRG_248t1:c.398A>G	NP_001531.1:p.Tyr133Cys
NM_001540.4:c.398A>G	NP_001531.1:p.Tyr133Cys
NM_001540.5:c.398A>G MANE Select	NP_001531.1:p.Tyr133Cys