Canonical Allele Identifier: CA118826

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 7481
• ClinVar RCV Id: RCV000007909
• dbSNP Id: rs28937569
• MyVariant Identifiers: chr7:g.75933417C>T (hg19) ; chr7:g.76304100C>T (hg38)
• PubMed: PMID:15122254 ; PMID:16368711

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304100C>T , CM000669.2:g.76304100C>T	GRCh38
NC_000007.13:g.75933417C>T , CM000669.1:g.75933417C>T	GRCh37
NC_000007.12:g.75771353C>T	NCBI36
NG_008995.1:g.6543C>T , LRG_248:g.6543C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.545C>T MANE Select	ENSP00000248553.6:p.Pro182Leu
ENST00000674547.1:c.*136C>T	ENSP00000502461.1:n.*136C>T
ENST00000674638.1:c.*66C>T	ENSP00000502651.1:n.*66C>T
ENST00000674650.1:c.*55C>T	ENSP00000501628.1:n.*55C>T
ENST00000674965.1:c.*201C>T	ENSP00000501765.1:n.*201C>T
ENST00000675134.1:c.524C>T	ENSP00000501831.1:p.Pro175Leu
ENST00000675226.1:c.*55C>T	ENSP00000502510.1:n.*55C>T
ENST00000675417.1:n.896C>T
ENST00000675538.1:c.*55C>T	ENSP00000502495.1:n.*55C>T
ENST00000675906.1:c.*130C>T	ENSP00000502714.1:n.*130C>T
ENST00000676231.1:c.575C>T	ENSP00000502249.1:p.Pro192Leu
ENST00000248553.6:c.545C>T	ENSP00000248553.6:p.Pro182Leu
ENST00000429938.1:c.41C>T	ENSP00000405285.1:p.Pro14Leu
ENST00000447574.1:c.*709C>T	ENSP00000414357.1:n.*709C>T
NM_001540.3:c.545C>T , LRG_248t1:c.545C>T	NP_001531.1:p.Pro182Leu
NM_001540.4:c.545C>T	NP_001531.1:p.Pro182Leu
NM_001540.5:c.545C>T MANE Select	NP_001531.1:p.Pro182Leu