Canonical Allele Identifier: CA1718330870
Gene: HSPB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303827G= , CM000669.2:g.76303827G= GRCh38
NC_000007.13:g.75933144G= , CM000669.1:g.75933144G= GRCh37
NC_000007.12:g.75771080G= NCBI36
NG_008995.1:g.6270G= , LRG_248:g.6270G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.390G= MANE Select ENSP00000248553.6:p.Glu130=
ENST00000674547.1:c.390G= ENSP00000502461.1:p.Glu130=
ENST00000674638.1:c.385G= ENSP00000502651.1:p.Ala129=
ENST00000674650.1:c.365-157G= ENSP00000501628.1:n.365-157G=
ENST00000674965.1:c.*46G= ENSP00000501765.1:n.*46G=
ENST00000675134.1:c.390G= ENSP00000501831.1:p.Glu130=
ENST00000675226.1:c.389G= ENSP00000502510.1:p.Ser130=
ENST00000675417.1:n.623G=
ENST00000675538.1:c.425G= ENSP00000502495.1:p.Ser142=
ENST00000675906.1:c.390G= ENSP00000502714.1:p.Glu130=
ENST00000676195.1:n.106G=
ENST00000676231.1:c.420G= ENSP00000502249.1:p.Glu140=
ENST00000248553.6:c.390G= ENSP00000248553.6:p.Glu130=
ENST00000429938.1:c.-115G= ENSP00000405285.1:n.-115G=
ENST00000447574.1:c.*554G= ENSP00000414357.1:n.*554G=
NM_001540.3:c.390G= , LRG_248t1:c.390G= NP_001531.1:p.Glu130=
NM_001540.4:c.390G= NP_001531.1:p.Glu130=
NM_001540.5:c.390G= MANE Select NP_001531.1:p.Glu130=