Canonical Allele Identifier: CA367766395

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 942735
• ClinVar RCV Id: RCV001212770
• dbSNP Id: rs1803072212
• gnomAD v4: 7-76304106-C-T
• MyVariant Identifiers: chr7:g.75933423C>T (hg19) ; chr7:g.76304106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304106C>T , CM000669.2:g.76304106C>T	GRCh38
NC_000007.13:g.75933423C>T , CM000669.1:g.75933423C>T	GRCh37
NC_000007.12:g.75771359C>T	NCBI36
NG_008995.1:g.6549C>T , LRG_248:g.6549C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.551C>T MANE Select	ENSP00000248553.6:p.Thr184Ile
ENST00000674547.1:c.*142C>T	ENSP00000502461.1:n.*142C>T
ENST00000674638.1:c.*72C>T	ENSP00000502651.1:n.*72C>T
ENST00000674650.1:c.*61C>T	ENSP00000501628.1:n.*61C>T
ENST00000674965.1:c.*207C>T	ENSP00000501765.1:n.*207C>T
ENST00000675134.1:c.530C>T	ENSP00000501831.1:p.Thr177Ile
ENST00000675226.1:c.*61C>T	ENSP00000502510.1:n.*61C>T
ENST00000675417.1:n.902C>T
ENST00000675538.1:c.*61C>T	ENSP00000502495.1:n.*61C>T
ENST00000675906.1:c.*136C>T	ENSP00000502714.1:n.*136C>T
ENST00000676231.1:c.581C>T	ENSP00000502249.1:p.Thr194Ile
ENST00000248553.6:c.551C>T	ENSP00000248553.6:p.Thr184Ile
ENST00000429938.1:c.47C>T	ENSP00000405285.1:p.Thr16Ile
ENST00000447574.1:c.*715C>T	ENSP00000414357.1:n.*715C>T
NM_001540.3:c.551C>T , LRG_248t1:c.551C>T	NP_001531.1:p.Thr184Ile
NM_001540.4:c.551C>T	NP_001531.1:p.Thr184Ile
NM_001540.5:c.551C>T MANE Select	NP_001531.1:p.Thr184Ile