Canonical Allele Identifier: CA1718331493
Community Standard Title: NM_001540.5(HSPB1):c.545C= (p.Pro182=)
Gene: HSPB1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001540.5:c.545C= MANE Select NP_001531.1:p.Pro182=
ENST00000248553.7:c.545C= MANE Select ENSP00000248553.6:p.Pro182=
NM_001540.3:c.545C= , LRG_248t1:c.545C= NP_001531.1:p.Pro182=
NM_001540.4:c.545C= NP_001531.1:p.Pro182=
ENST00000248553.6:c.545C= ENSP00000248553.6:p.Pro182=
ENST00000429938.1:c.41C= ENSP00000405285.1:p.Pro14=
ENST00000447574.1:c.*709C= ENSP00000414357.1:n.*709C=
ENST00000674547.1:c.*136C= ENSP00000502461.1:n.*136C=
ENST00000674638.1:c.*66C= ENSP00000502651.1:n.*66C=
ENST00000674650.1:c.*55C= ENSP00000501628.1:n.*55C=
ENST00000674965.1:c.*201C= ENSP00000501765.1:n.*201C=
ENST00000675134.1:c.524C= ENSP00000501831.1:p.Pro175=
ENST00000675226.1:c.*55C= ENSP00000502510.1:n.*55C=
ENST00000675417.1:n.896C=
ENST00000675538.1:c.*55C= ENSP00000502495.1:n.*55C=
ENST00000675906.1:c.*130C= ENSP00000502714.1:n.*130C=
ENST00000676231.1:c.575C= ENSP00000502249.1:p.Pro192=