Canonical Allele Identifier: CA367766252

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 465276
• ClinVar RCV Id: RCV000535288
• dbSNP Id: rs150110356
• MyVariant Identifiers: chr7:g.75933404G>T (hg19) ; chr7:g.76304087G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304087G>T , CM000669.2:g.76304087G>T	GRCh38
NC_000007.13:g.75933404G>T , CM000669.1:g.75933404G>T	GRCh37
NC_000007.12:g.75771340G>T	NCBI36
NG_008995.1:g.6530G>T , LRG_248:g.6530G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.532G>T MANE Select	ENSP00000248553.6:p.Glu178Ter
ENST00000674547.1:c.*123G>T	ENSP00000502461.1:n.*123G>T
ENST00000674638.1:c.*53G>T	ENSP00000502651.1:n.*53G>T
ENST00000674650.1:c.*42G>T	ENSP00000501628.1:n.*42G>T
ENST00000674965.1:c.*188G>T	ENSP00000501765.1:n.*188G>T
ENST00000675134.1:c.511G>T	ENSP00000501831.1:p.Glu171Ter
ENST00000675226.1:c.*42G>T	ENSP00000502510.1:n.*42G>T
ENST00000675417.1:n.883G>T
ENST00000675538.1:c.*42G>T	ENSP00000502495.1:n.*42G>T
ENST00000675906.1:c.*117G>T	ENSP00000502714.1:n.*117G>T
ENST00000676231.1:c.562G>T	ENSP00000502249.1:p.Glu188Ter
ENST00000248553.6:c.532G>T	ENSP00000248553.6:p.Glu178Ter
ENST00000429938.1:c.28G>T	ENSP00000405285.1:p.Glu10Ter
ENST00000447574.1:c.*696G>T	ENSP00000414357.1:n.*696G>T
NM_001540.3:c.532G>T , LRG_248t1:c.532G>T	NP_001531.1:p.Glu178Ter
NM_001540.4:c.532G>T	NP_001531.1:p.Glu178Ter
NM_001540.5:c.532G>T MANE Select	NP_001531.1:p.Glu178Ter