Canonical Allele Identifier: CA118822

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 7479
• ClinVar RCV Id: RCV000007906 ; RCV000007907 ; RCV000489743 ; RCV002354152
• dbSNP Id: rs29001571
• MyVariant Identifiers: chr7:g.75933133C>T (hg19) ; chr7:g.76303816C>T (hg38)
• PubMed: PMID:15122254 ; PMID:16087758 ; PMID:20178975 ; PMID:20660910 ; PMID:22031878

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303816C>T , CM000669.2:g.76303816C>T	GRCh38
NC_000007.13:g.75933133C>T , CM000669.1:g.75933133C>T	GRCh37
NC_000007.12:g.75771069C>T	NCBI36
NG_008995.1:g.6259C>T , LRG_248:g.6259C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.379C>T MANE Select	ENSP00000248553.6:p.Arg127Trp
ENST00000674547.1:c.379C>T	ENSP00000502461.1:p.Arg127Trp
ENST00000674638.1:c.374C>T	ENSP00000502651.1:p.Ala125Val
ENST00000674650.1:c.365-168C>T	ENSP00000501628.1:n.365-168C>T
ENST00000674965.1:c.*35C>T	ENSP00000501765.1:n.*35C>T
ENST00000675134.1:c.379C>T	ENSP00000501831.1:p.Arg127Trp
ENST00000675226.1:c.378C>T	ENSP00000502510.1:p.Ser126=
ENST00000675417.1:n.612C>T
ENST00000675538.1:c.414C>T	ENSP00000502495.1:p.Ser138=
ENST00000675906.1:c.379C>T	ENSP00000502714.1:p.Arg127Trp
ENST00000676195.1:n.95C>T
ENST00000676231.1:c.409C>T	ENSP00000502249.1:p.Arg137Trp
ENST00000248553.6:c.379C>T	ENSP00000248553.6:p.Arg127Trp
ENST00000429938.1:c.-126C>T	ENSP00000405285.1:n.-126C>T
ENST00000447574.1:c.*543C>T	ENSP00000414357.1:n.*543C>T
NM_001540.3:c.379C>T , LRG_248t1:c.379C>T	NP_001531.1:p.Arg127Trp
NM_001540.4:c.379C>T	NP_001531.1:p.Arg127Trp
NM_001540.5:c.379C>T MANE Select	NP_001531.1:p.Arg127Trp