Canonical Allele Identifier: CA118820

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 7478
• ClinVar RCV Id: RCV000007904 ; RCV000007905 ; RCV000789332
• dbSNP Id: rs28939680
• MyVariant Identifiers: chr7:g.75933158C>T (hg19) ; chr7:g.76303841C>T (hg38)
• PubMed: PMID:11528513 ; PMID:15122254 ; PMID:17881652 ; PMID:18832141

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.404C>T MANE Select	ENSP00000248553.6:p.Ser135Phe
ENST00000674547.1:c.404C>T	ENSP00000502461.1:p.Ser135Phe
ENST00000674638.1:c.399C>T	ENSP00000502651.1:p.Leu133=
ENST00000674650.1:c.365-143C>T	ENSP00000501628.1:n.365-143C>T
ENST00000674965.1:c.*60C>T	ENSP00000501765.1:n.*60C>T
ENST00000675134.1:c.404C>T	ENSP00000501831.1:p.Ser135Phe
ENST00000675226.1:c.403C>T	ENSP00000502510.1:p.Pro135Ser
ENST00000675417.1:n.637C>T
ENST00000675538.1:c.439C>T	ENSP00000502495.1:p.Pro147Ser
ENST00000675906.1:c.404C>T	ENSP00000502714.1:p.Ser135Phe
ENST00000676195.1:n.120C>T
ENST00000676231.1:c.434C>T	ENSP00000502249.1:p.Ser145Phe
ENST00000248553.6:c.404C>T	ENSP00000248553.6:p.Ser135Phe
ENST00000429938.1:c.-101C>T	ENSP00000405285.1:n.-101C>T
ENST00000447574.1:c.*568C>T	ENSP00000414357.1:n.*568C>T
NM_001540.3:c.404C>T , LRG_248t1:c.404C>T	NP_001531.1:p.Ser135Phe
NM_001540.4:c.404C>T	NP_001531.1:p.Ser135Phe
NM_001540.5:c.404C>T MANE Select	NP_001531.1:p.Ser135Phe