Canonical Allele Identifier: CA367766410

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933426T>A (hg19) ; chr7:g.76304109T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304109T>A , CM000669.2:g.76304109T>A	GRCh38
NC_000007.13:g.75933426T>A , CM000669.1:g.75933426T>A	GRCh37
NC_000007.12:g.75771362T>A	NCBI36
NG_008995.1:g.6552T>A , LRG_248:g.6552T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.554T>A MANE Select	ENSP00000248553.6:p.Phe185Tyr
ENST00000674547.1:c.*145T>A	ENSP00000502461.1:n.*145T>A
ENST00000674638.1:c.*75T>A	ENSP00000502651.1:n.*75T>A
ENST00000674650.1:c.*64T>A	ENSP00000501628.1:n.*64T>A
ENST00000674965.1:c.*210T>A	ENSP00000501765.1:n.*210T>A
ENST00000675134.1:c.533T>A	ENSP00000501831.1:p.Phe178Tyr
ENST00000675226.1:c.*64T>A	ENSP00000502510.1:n.*64T>A
ENST00000675417.1:n.905T>A
ENST00000675538.1:c.*64T>A	ENSP00000502495.1:n.*64T>A
ENST00000675906.1:c.*139T>A	ENSP00000502714.1:n.*139T>A
ENST00000676231.1:c.584T>A	ENSP00000502249.1:p.Phe195Tyr
ENST00000248553.6:c.554T>A	ENSP00000248553.6:p.Phe185Tyr
ENST00000429938.1:c.50T>A	ENSP00000405285.1:p.Phe17Tyr
ENST00000447574.1:c.*718T>A	ENSP00000414357.1:n.*718T>A
NM_001540.3:c.554T>A , LRG_248t1:c.554T>A	NP_001531.1:p.Phe185Tyr
NM_001540.4:c.554T>A	NP_001531.1:p.Phe185Tyr
NM_001540.5:c.554T>A MANE Select	NP_001531.1:p.Phe185Tyr