Canonical Allele Identifier: CA1718331486
Community Standard Title: NM_001540.5(HSPB1):c.544C= (p.Pro182=)
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76304099C= , CM000669.2:g.76304099C= GRCh38
NC_000007.13:g.75933416C= , CM000669.1:g.75933416C= GRCh37
NC_000007.12:g.75771352C= NCBI36
NG_008995.1:g.6542C= , LRG_248:g.6542C=

Transcript Alleles

HGVS Amino-acid Change
NM_001540.5:c.544C= MANE Select NP_001531.1:p.Pro182=
ENST00000248553.7:c.544C= MANE Select ENSP00000248553.6:p.Pro182=
NM_001540.3:c.544C= , LRG_248t1:c.544C= NP_001531.1:p.Pro182=
NM_001540.4:c.544C= NP_001531.1:p.Pro182=
ENST00000248553.6:c.544C= ENSP00000248553.6:p.Pro182=
ENST00000429938.1:c.40C= ENSP00000405285.1:p.Pro14=
ENST00000447574.1:c.*708C= ENSP00000414357.1:n.*708C=
ENST00000674547.1:c.*135C= ENSP00000502461.1:n.*135C=
ENST00000674638.1:c.*65C= ENSP00000502651.1:n.*65C=
ENST00000674650.1:c.*54C= ENSP00000501628.1:n.*54C=
ENST00000674965.1:c.*200C= ENSP00000501765.1:n.*200C=
ENST00000675134.1:c.523C= ENSP00000501831.1:p.Pro175=
ENST00000675226.1:c.*54C= ENSP00000502510.1:n.*54C=
ENST00000675417.1:n.895C=
ENST00000675538.1:c.*54C= ENSP00000502495.1:n.*54C=
ENST00000675906.1:c.*129C= ENSP00000502714.1:n.*129C=
ENST00000676231.1:c.574C= ENSP00000502249.1:p.Pro192=