Canonical Allele Identifier: CA456330530

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 1013549
• ClinVar RCV Id: RCV001312121
• dbSNP Id: rs1803060234
• MyVariant Identifiers: chr7:g.75933165C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303848C>T , CM000669.2:g.76303848C>T	GRCh38
NC_000007.13:g.75933165C>T , CM000669.1:g.75933165C>T	GRCh37
NC_000007.12:g.75771101C>T	NCBI36
NG_008995.1:g.6291C>T , LRG_248:g.6291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.411C>T MANE Select	ENSP00000248553.6:p.Cys137=
ENST00000674547.1:c.411C>T	ENSP00000502461.1:p.Cys137=
ENST00000674638.1:c.406C>T	ENSP00000502651.1:p.Leu136Phe
ENST00000674650.1:c.365-136C>T	ENSP00000501628.1:n.365-136C>T
ENST00000674965.1:c.*67C>T	ENSP00000501765.1:n.*67C>T
ENST00000675134.1:c.407+4C>T	ENSP00000501831.1:n.407+4C>T
ENST00000675226.1:c.410C>T	ENSP00000502510.1:p.Ala137Val
ENST00000675417.1:n.644C>T
ENST00000675538.1:c.446C>T	ENSP00000502495.1:p.Ala149Val
ENST00000675906.1:c.411C>T	ENSP00000502714.1:p.Cys137=
ENST00000676195.1:n.127C>T
ENST00000676231.1:c.441C>T	ENSP00000502249.1:p.Cys147=
ENST00000248553.6:c.411C>T	ENSP00000248553.6:p.Cys137=
ENST00000429938.1:c.-94C>T	ENSP00000405285.1:n.-94C>T
ENST00000447574.1:c.*575C>T	ENSP00000414357.1:n.*575C>T
NM_001540.3:c.411C>T , LRG_248t1:c.411C>T	NP_001531.1:p.Cys137=
NM_001540.4:c.411C>T	NP_001531.1:p.Cys137=
NM_001540.5:c.411C>T MANE Select	NP_001531.1:p.Cys137=