Canonical Allele Identifier: CA16618562

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 421350
• ClinVar RCV Id: RCV000486834 ; RCV001383411
• dbSNP Id: rs1064795077
• MyVariant Identifiers: chr7:g.75933170C>T (hg19) ; chr7:g.76303853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303853C>T , CM000669.2:g.76303853C>T	GRCh38
NC_000007.13:g.75933170C>T , CM000669.1:g.75933170C>T	GRCh37
NC_000007.12:g.75771106C>T	NCBI36
NG_008995.1:g.6296C>T , LRG_248:g.6296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.416C>T MANE Select	ENSP00000248553.6:p.Thr139Met
ENST00000674547.1:c.416C>T	ENSP00000502461.1:p.Thr139Met
ENST00000674638.1:c.411C>T	ENSP00000502651.1:p.His137=
ENST00000674650.1:c.365-131C>T	ENSP00000501628.1:n.365-131C>T
ENST00000674965.1:c.*72C>T	ENSP00000501765.1:n.*72C>T
ENST00000675134.1:c.407+9C>T	ENSP00000501831.1:n.407+9C>T
ENST00000675226.1:c.415C>T	ENSP00000502510.1:p.Arg139Cys
ENST00000675417.1:n.649C>T
ENST00000675538.1:c.451C>T	ENSP00000502495.1:p.Arg151Cys
ENST00000675906.1:c.416C>T	ENSP00000502714.1:p.Thr139Met
ENST00000676195.1:n.132C>T
ENST00000676231.1:c.446C>T	ENSP00000502249.1:p.Thr149Met
ENST00000248553.6:c.416C>T	ENSP00000248553.6:p.Thr139Met
ENST00000429938.1:c.-89C>T	ENSP00000405285.1:n.-89C>T
ENST00000447574.1:c.*580C>T	ENSP00000414357.1:n.*580C>T
NM_001540.3:c.416C>T , LRG_248t1:c.416C>T	NP_001531.1:p.Thr139Met
NM_001540.4:c.416C>T	NP_001531.1:p.Thr139Met
NM_001540.5:c.416C>T MANE Select	NP_001531.1:p.Thr139Met