Canonical Allele Identifier: CA367765592

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 2664086
• ClinVar RCV Id: RCV003444546
• MyVariant Identifiers: chr7:g.75933181A>T (hg19) ; chr7:g.76303864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303864A>T , CM000669.2:g.76303864A>T	GRCh38
NC_000007.13:g.75933181A>T , CM000669.1:g.75933181A>T	GRCh37
NC_000007.12:g.75771117A>T	NCBI36
NG_008995.1:g.6307A>T , LRG_248:g.6307A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.427A>T MANE Select	ENSP00000248553.6:p.Thr143Ser
ENST00000674547.1:c.427A>T	ENSP00000502461.1:p.Thr143Ser
ENST00000674638.1:c.422A>T	ENSP00000502651.1:p.His141Leu
ENST00000674650.1:c.365-120A>T	ENSP00000501628.1:n.365-120A>T
ENST00000674965.1:c.*83A>T	ENSP00000501765.1:n.*83A>T
ENST00000675134.1:c.407+20A>T	ENSP00000501831.1:n.407+20A>T
ENST00000675226.1:c.426A>T	ENSP00000502510.1:p.Thr142=
ENST00000675417.1:n.660A>T
ENST00000675538.1:c.462A>T	ENSP00000502495.1:p.Thr154=
ENST00000675906.1:c.427A>T	ENSP00000502714.1:p.Thr143Ser
ENST00000676195.1:n.143A>T
ENST00000676231.1:c.457A>T	ENSP00000502249.1:p.Thr153Ser
ENST00000248553.6:c.427A>T	ENSP00000248553.6:p.Thr143Ser
ENST00000429938.1:c.-78A>T	ENSP00000405285.1:n.-78A>T
ENST00000447574.1:c.*591A>T	ENSP00000414357.1:n.*591A>T
NM_001540.3:c.427A>T , LRG_248t1:c.427A>T	NP_001531.1:p.Thr143Ser
NM_001540.4:c.427A>T	NP_001531.1:p.Thr143Ser
NM_001540.5:c.427A>T MANE Select	NP_001531.1:p.Thr143Ser