Canonical Allele Identifier: CA2516800771
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303905G>A , CM000669.2:g.76303905G>A GRCh38
NC_000007.13:g.75933222G>A , CM000669.1:g.75933222G>A GRCh37
NC_000007.12:g.75771158G>A NCBI36
NG_008995.1:g.6348G>A , LRG_248:g.6348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.428+40G>A MANE Select ENSP00000248553.6:n.428+40G>A
ENST00000674547.1:c.*19+17G>A ENSP00000502461.1:n.*19+17G>A
ENST00000674638.1:c.423+40G>A ENSP00000502651.1:n.423+40G>A
ENST00000674650.1:c.365-79G>A ENSP00000501628.1:n.365-79G>A
ENST00000674965.1:c.*84+40G>A ENSP00000501765.1:n.*84+40G>A
ENST00000675134.1:c.407+61G>A ENSP00000501831.1:n.407+61G>A
ENST00000675226.1:c.427+40G>A ENSP00000502510.1:n.427+40G>A
ENST00000675417.1:n.701G>A
ENST00000675538.1:c.463+40G>A ENSP00000502495.1:n.463+40G>A
ENST00000675906.1:c.*13+23G>A ENSP00000502714.1:n.*13+23G>A
ENST00000676231.1:c.458+40G>A ENSP00000502249.1:n.458+40G>A
ENST00000248553.6:c.428+40G>A ENSP00000248553.6:n.428+40G>A
ENST00000429938.1:c.-77+40G>A ENSP00000405285.1:n.-77+40G>A
ENST00000447574.1:c.*592+40G>A ENSP00000414357.1:n.*592+40G>A
NM_001540.3:c.428+40G>A , LRG_248t1:c.428+40G>A NP_001531.1:n.428+40G>A
NM_001540.4:c.428+40G>A NP_001531.1:n.428+40G>A
NM_001540.5:c.428+40G>A MANE Select NP_001531.1:n.428+40G>A