Canonical Allele Identifier: CA367765593

Gene: HSPB1

Linked Data

• dbSNP Id: rs1201100023
• gnomAD v2: 7-75933181-A-G
• gnomAD v4: 7-76303864-A-G
• MyVariant Identifiers: chr7:g.75933181A>G (hg19) ; chr7:g.76303864A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.427A>G MANE Select	ENSP00000248553.6:p.Thr143Ala
ENST00000674547.1:c.427A>G	ENSP00000502461.1:p.Thr143Ala
ENST00000674638.1:c.422A>G	ENSP00000502651.1:p.His141Arg
ENST00000674650.1:c.365-120A>G	ENSP00000501628.1:n.365-120A>G
ENST00000674965.1:c.*83A>G	ENSP00000501765.1:n.*83A>G
ENST00000675134.1:c.407+20A>G	ENSP00000501831.1:n.407+20A>G
ENST00000675226.1:c.426A>G	ENSP00000502510.1:p.Thr142=
ENST00000675417.1:n.660A>G
ENST00000675538.1:c.462A>G	ENSP00000502495.1:p.Thr154=
ENST00000675906.1:c.427A>G	ENSP00000502714.1:p.Thr143Ala
ENST00000676195.1:n.143A>G
ENST00000676231.1:c.457A>G	ENSP00000502249.1:p.Thr153Ala
ENST00000248553.6:c.427A>G	ENSP00000248553.6:p.Thr143Ala
ENST00000429938.1:c.-78A>G	ENSP00000405285.1:n.-78A>G
ENST00000447574.1:c.*591A>G	ENSP00000414357.1:n.*591A>G
NM_001540.3:c.427A>G , LRG_248t1:c.427A>G	NP_001531.1:p.Thr143Ala
NM_001540.4:c.427A>G	NP_001531.1:p.Thr143Ala
NM_001540.5:c.427A>G MANE Select	NP_001531.1:p.Thr143Ala