Canonical Allele Identifier: CA367765473

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 533813
• ClinVar RCV Id: RCV000641078 ; RCV000789965 ; RCV001268034
• dbSNP Id: rs28939680
• gnomAD v4: 7-76303841-C-A
• MyVariant Identifiers: chr7:g.75933158C>A (hg19) ; chr7:g.76303841C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303841C>A , CM000669.2:g.76303841C>A	GRCh38
NC_000007.13:g.75933158C>A , CM000669.1:g.75933158C>A	GRCh37
NC_000007.12:g.75771094C>A	NCBI36
NG_008995.1:g.6284C>A , LRG_248:g.6284C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.404C>A MANE Select	ENSP00000248553.6:p.Ser135Tyr
ENST00000674547.1:c.404C>A	ENSP00000502461.1:p.Ser135Tyr
ENST00000674638.1:c.399C>A	ENSP00000502651.1:p.Leu133=
ENST00000674650.1:c.365-143C>A	ENSP00000501628.1:n.365-143C>A
ENST00000674965.1:c.*60C>A	ENSP00000501765.1:n.*60C>A
ENST00000675134.1:c.404C>A	ENSP00000501831.1:p.Ser135Tyr
ENST00000675226.1:c.403C>A	ENSP00000502510.1:p.Pro135Thr
ENST00000675417.1:n.637C>A
ENST00000675538.1:c.439C>A	ENSP00000502495.1:p.Pro147Thr
ENST00000675906.1:c.404C>A	ENSP00000502714.1:p.Ser135Tyr
ENST00000676195.1:n.120C>A
ENST00000676231.1:c.434C>A	ENSP00000502249.1:p.Ser145Tyr
ENST00000248553.6:c.404C>A	ENSP00000248553.6:p.Ser135Tyr
ENST00000429938.1:c.-101C>A	ENSP00000405285.1:n.-101C>A
ENST00000447574.1:c.*568C>A	ENSP00000414357.1:n.*568C>A
NM_001540.3:c.404C>A , LRG_248t1:c.404C>A	NP_001531.1:p.Ser135Tyr
NM_001540.4:c.404C>A	NP_001531.1:p.Ser135Tyr
NM_001540.5:c.404C>A MANE Select	NP_001531.1:p.Ser135Tyr