Canonical Allele Identifier: CA367766421

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 2500647
• ClinVar RCV Id: RCV003225559
• dbSNP Id: rs1803072543
• MyVariant Identifiers: chr7:g.75933428G>C (hg19) ; chr7:g.76304111G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304111G>C , CM000669.2:g.76304111G>C	GRCh38
NC_000007.13:g.75933428G>C , CM000669.1:g.75933428G>C	GRCh37
NC_000007.12:g.75771364G>C	NCBI36
NG_008995.1:g.6554G>C , LRG_248:g.6554G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.556G>C MANE Select	ENSP00000248553.6:p.Glu186Gln
ENST00000674547.1:c.*147G>C	ENSP00000502461.1:n.*147G>C
ENST00000674638.1:c.*77G>C	ENSP00000502651.1:n.*77G>C
ENST00000674650.1:c.*66G>C	ENSP00000501628.1:n.*66G>C
ENST00000674965.1:c.*212G>C	ENSP00000501765.1:n.*212G>C
ENST00000675134.1:c.535G>C	ENSP00000501831.1:p.Glu179Gln
ENST00000675226.1:c.*66G>C	ENSP00000502510.1:n.*66G>C
ENST00000675417.1:n.907G>C
ENST00000675538.1:c.*66G>C	ENSP00000502495.1:n.*66G>C
ENST00000675906.1:c.*141G>C	ENSP00000502714.1:n.*141G>C
ENST00000676231.1:c.586G>C	ENSP00000502249.1:p.Glu196Gln
ENST00000248553.6:c.556G>C	ENSP00000248553.6:p.Glu186Gln
ENST00000429938.1:c.52G>C	ENSP00000405285.1:p.Glu18Gln
ENST00000447574.1:c.*720G>C	ENSP00000414357.1:n.*720G>C
NM_001540.3:c.556G>C , LRG_248t1:c.556G>C	NP_001531.1:p.Glu186Gln
NM_001540.4:c.556G>C	NP_001531.1:p.Glu186Gln
NM_001540.5:c.556G>C MANE Select	NP_001531.1:p.Glu186Gln