Canonical Allele Identifier: CA1718330869
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303825G= , CM000669.2:g.76303825G= GRCh38
NC_000007.13:g.75933142G= , CM000669.1:g.75933142G= GRCh37
NC_000007.12:g.75771078G= NCBI36
NG_008995.1:g.6268G= , LRG_248:g.6268G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.388G= MANE Select ENSP00000248553.6:p.Glu130=
ENST00000674547.1:c.388G= ENSP00000502461.1:p.Glu130=
ENST00000674638.1:c.383G= ENSP00000502651.1:p.Arg128=
ENST00000674650.1:c.365-159G= ENSP00000501628.1:n.365-159G=
ENST00000674965.1:c.*44G= ENSP00000501765.1:n.*44G=
ENST00000675134.1:c.388G= ENSP00000501831.1:p.Glu130=
ENST00000675226.1:c.387G= ENSP00000502510.1:p.Thr129=
ENST00000675417.1:n.621G=
ENST00000675538.1:c.423G= ENSP00000502495.1:p.Thr141=
ENST00000675906.1:c.388G= ENSP00000502714.1:p.Glu130=
ENST00000676195.1:n.104G=
ENST00000676231.1:c.418G= ENSP00000502249.1:p.Glu140=
ENST00000248553.6:c.388G= ENSP00000248553.6:p.Glu130=
ENST00000429938.1:c.-117G= ENSP00000405285.1:n.-117G=
ENST00000447574.1:c.*552G= ENSP00000414357.1:n.*552G=
NM_001540.3:c.388G= , LRG_248t1:c.388G= NP_001531.1:p.Glu130=
NM_001540.4:c.388G= NP_001531.1:p.Glu130=
NM_001540.5:c.388G= MANE Select NP_001531.1:p.Glu130=