Canonical Allele Identifier: CA367765449

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933154A>G (hg19) ; chr7:g.76303837A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303837A>G , CM000669.2:g.76303837A>G	GRCh38
NC_000007.13:g.75933154A>G , CM000669.1:g.75933154A>G	GRCh37
NC_000007.12:g.75771090A>G	NCBI36
NG_008995.1:g.6280A>G , LRG_248:g.6280A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.400A>G MANE Select	ENSP00000248553.6:p.Ile134Val
ENST00000674547.1:c.400A>G	ENSP00000502461.1:p.Ile134Val
ENST00000674638.1:c.395A>G	ENSP00000502651.1:p.His132Arg
ENST00000674650.1:c.365-147A>G	ENSP00000501628.1:n.365-147A>G
ENST00000674965.1:c.*56A>G	ENSP00000501765.1:n.*56A>G
ENST00000675134.1:c.400A>G	ENSP00000501831.1:p.Ile134Val
ENST00000675226.1:c.399A>G	ENSP00000502510.1:p.Thr133=
ENST00000675417.1:n.633A>G
ENST00000675538.1:c.435A>G	ENSP00000502495.1:p.Thr145=
ENST00000675906.1:c.400A>G	ENSP00000502714.1:p.Ile134Val
ENST00000676195.1:n.116A>G
ENST00000676231.1:c.430A>G	ENSP00000502249.1:p.Ile144Val
ENST00000248553.6:c.400A>G	ENSP00000248553.6:p.Ile134Val
ENST00000429938.1:c.-105A>G	ENSP00000405285.1:n.-105A>G
ENST00000447574.1:c.*564A>G	ENSP00000414357.1:n.*564A>G
NM_001540.3:c.400A>G , LRG_248t1:c.400A>G	NP_001531.1:p.Ile134Val
NM_001540.4:c.400A>G	NP_001531.1:p.Ile134Val
NM_001540.5:c.400A>G MANE Select	NP_001531.1:p.Ile134Val