Canonical Allele Identifier: CA118824

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 7480
• ClinVar RCV Id: RCV000007908 ; RCV000809687 ; RCV001174177 ; RCV001815164
• dbSNP Id: rs28937568
• MyVariant Identifiers: chr7:g.75933324C>T (hg19) ; chr7:g.76304007C>T (hg38)
• PubMed: PMID:15122254

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304007C>T , CM000669.2:g.76304007C>T	GRCh38
NC_000007.13:g.75933324C>T , CM000669.1:g.75933324C>T	GRCh37
NC_000007.12:g.75771260C>T	NCBI36
NG_008995.1:g.6450C>T , LRG_248:g.6450C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.452C>T MANE Select	ENSP00000248553.6:p.Thr151Ile
ENST00000674547.1:c.*43C>T	ENSP00000502461.1:n.*43C>T
ENST00000674638.1:c.447C>T	ENSP00000502651.1:p.His149=
ENST00000674650.1:c.388C>T	ENSP00000501628.1:p.Pro130Ser
ENST00000674965.1:c.*108C>T	ENSP00000501765.1:n.*108C>T
ENST00000675134.1:c.431C>T	ENSP00000501831.1:p.Thr144Ile
ENST00000675226.1:c.451C>T	ENSP00000502510.1:p.Pro151Ser
ENST00000675417.1:n.803C>T
ENST00000675538.1:c.487C>T	ENSP00000502495.1:p.Pro163Ser
ENST00000675906.1:c.*37C>T	ENSP00000502714.1:n.*37C>T
ENST00000676231.1:c.482C>T	ENSP00000502249.1:p.Thr161Ile
ENST00000248553.6:c.452C>T	ENSP00000248553.6:p.Thr151Ile
ENST00000429938.1:c.-53C>T	ENSP00000405285.1:n.-53C>T
ENST00000447574.1:c.*616C>T	ENSP00000414357.1:n.*616C>T
NM_001540.3:c.452C>T , LRG_248t1:c.452C>T	NP_001531.1:p.Thr151Ile
NM_001540.4:c.452C>T	NP_001531.1:p.Thr151Ile
NM_001540.5:c.452C>T MANE Select	NP_001531.1:p.Thr151Ile