Canonical Allele Identifier: CA2683408912
Gene: HSPB1 HGNC NCBI

Linked Data

gnomAD v4: 7-76303899-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303899G>A , CM000669.2:g.76303899G>A GRCh38
NC_000007.13:g.75933216G>A , CM000669.1:g.75933216G>A GRCh37
NC_000007.12:g.75771152G>A NCBI36
NG_008995.1:g.6342G>A , LRG_248:g.6342G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.428+34G>A MANE Select ENSP00000248553.6:n.428+34G>A
ENST00000674547.1:c.*19+11G>A ENSP00000502461.1:n.*19+11G>A
ENST00000674638.1:c.423+34G>A ENSP00000502651.1:n.423+34G>A
ENST00000674650.1:c.365-85G>A ENSP00000501628.1:n.365-85G>A
ENST00000674965.1:c.*84+34G>A ENSP00000501765.1:n.*84+34G>A
ENST00000675134.1:c.407+55G>A ENSP00000501831.1:n.407+55G>A
ENST00000675226.1:c.427+34G>A ENSP00000502510.1:n.427+34G>A
ENST00000675417.1:n.695G>A
ENST00000675538.1:c.463+34G>A ENSP00000502495.1:n.463+34G>A
ENST00000675906.1:c.*13+17G>A ENSP00000502714.1:n.*13+17G>A
ENST00000676231.1:c.458+34G>A ENSP00000502249.1:n.458+34G>A
ENST00000248553.6:c.428+34G>A ENSP00000248553.6:n.428+34G>A
ENST00000429938.1:c.-77+34G>A ENSP00000405285.1:n.-77+34G>A
ENST00000447574.1:c.*592+34G>A ENSP00000414357.1:n.*592+34G>A
NM_001540.3:c.428+34G>A , LRG_248t1:c.428+34G>A NP_001531.1:n.428+34G>A
NM_001540.4:c.428+34G>A NP_001531.1:n.428+34G>A
NM_001540.5:c.428+34G>A MANE Select NP_001531.1:n.428+34G>A