Canonical Allele Identifier: CA367766364

Gene: HSPB1

Linked Data

• MyVariant Identifiers: chr7:g.75933417C>A (hg19) ; chr7:g.76304100C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76304100C>A , CM000669.2:g.76304100C>A	GRCh38
NC_000007.13:g.75933417C>A , CM000669.1:g.75933417C>A	GRCh37
NC_000007.12:g.75771353C>A	NCBI36
NG_008995.1:g.6543C>A , LRG_248:g.6543C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248553.7:c.545C>A MANE Select	ENSP00000248553.6:p.Pro182Gln
ENST00000674547.1:c.*136C>A	ENSP00000502461.1:n.*136C>A
ENST00000674638.1:c.*66C>A	ENSP00000502651.1:n.*66C>A
ENST00000674650.1:c.*55C>A	ENSP00000501628.1:n.*55C>A
ENST00000674965.1:c.*201C>A	ENSP00000501765.1:n.*201C>A
ENST00000675134.1:c.524C>A	ENSP00000501831.1:p.Pro175Gln
ENST00000675226.1:c.*55C>A	ENSP00000502510.1:n.*55C>A
ENST00000675417.1:n.896C>A
ENST00000675538.1:c.*55C>A	ENSP00000502495.1:n.*55C>A
ENST00000675906.1:c.*130C>A	ENSP00000502714.1:n.*130C>A
ENST00000676231.1:c.575C>A	ENSP00000502249.1:p.Pro192Gln
ENST00000248553.6:c.545C>A	ENSP00000248553.6:p.Pro182Gln
ENST00000429938.1:c.41C>A	ENSP00000405285.1:p.Pro14Gln
ENST00000447574.1:c.*709C>A	ENSP00000414357.1:n.*709C>A
NM_001540.3:c.545C>A , LRG_248t1:c.545C>A	NP_001531.1:p.Pro182Gln
NM_001540.4:c.545C>A	NP_001531.1:p.Pro182Gln
NM_001540.5:c.545C>A MANE Select	NP_001531.1:p.Pro182Gln