Canonical Allele Identifier: CA367766416

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 1693438
• ClinVar RCV Id: RCV002260849
• dbSNP Id: rs533051169
• gnomAD v4: 7-76304110-C-A
• MyVariant Identifiers: chr7:g.75933427C>A (hg19) ; chr7:g.76304110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304110C>A , CM000669.2:g.76304110C>A	GRCh38
NC_000007.13:g.75933427C>A , CM000669.1:g.75933427C>A	GRCh37
NC_000007.12:g.75771363C>A	NCBI36
NG_008995.1:g.6553C>A , LRG_248:g.6553C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.555C>A MANE Select	ENSP00000248553.6:p.Phe185Leu
ENST00000674547.1:c.*146C>A	ENSP00000502461.1:n.*146C>A
ENST00000674638.1:c.*76C>A	ENSP00000502651.1:n.*76C>A
ENST00000674650.1:c.*65C>A	ENSP00000501628.1:n.*65C>A
ENST00000674965.1:c.*211C>A	ENSP00000501765.1:n.*211C>A
ENST00000675134.1:c.534C>A	ENSP00000501831.1:p.Phe178Leu
ENST00000675226.1:c.*65C>A	ENSP00000502510.1:n.*65C>A
ENST00000675417.1:n.906C>A
ENST00000675538.1:c.*65C>A	ENSP00000502495.1:n.*65C>A
ENST00000675906.1:c.*140C>A	ENSP00000502714.1:n.*140C>A
ENST00000676231.1:c.585C>A	ENSP00000502249.1:p.Phe195Leu
ENST00000248553.6:c.555C>A	ENSP00000248553.6:p.Phe185Leu
ENST00000429938.1:c.51C>A	ENSP00000405285.1:p.Phe17Leu
ENST00000447574.1:c.*719C>A	ENSP00000414357.1:n.*719C>A
NM_001540.3:c.555C>A , LRG_248t1:c.555C>A	NP_001531.1:p.Phe185Leu
NM_001540.4:c.555C>A	NP_001531.1:p.Phe185Leu
NM_001540.5:c.555C>A MANE Select	NP_001531.1:p.Phe185Leu