Canonical Allele Identifier: CA367765259
Gene: HSPB1 HGNC NCBI

Linked Data

dbSNP Id: rs1803058054
gnomAD v3: 7-76303801-G-A
gnomAD v4: 7-76303801-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303801G>A , CM000669.2:g.76303801G>A GRCh38
NC_000007.13:g.75933118G>A , CM000669.1:g.75933118G>A GRCh37
NC_000007.12:g.75771054G>A NCBI36
NG_008995.1:g.6244G>A , LRG_248:g.6244G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.365-1G>A MANE Select ENSP00000248553.6:n.365-1G>A
ENST00000674547.1:c.365-1G>A ENSP00000502461.1:n.365-1G>A
ENST00000674638.1:c.365-6G>A ENSP00000502651.1:n.365-6G>A
ENST00000674650.1:c.365-183G>A ENSP00000501628.1:n.365-183G>A
ENST00000674965.1:c.*20G>A ENSP00000501765.1:n.*20G>A
ENST00000675134.1:c.365-1G>A ENSP00000501831.1:n.365-1G>A
ENST00000675226.1:c.369-6G>A ENSP00000502510.1:n.369-6G>A
ENST00000675417.1:n.597G>A
ENST00000675538.1:c.400-1G>A ENSP00000502495.1:n.400-1G>A
ENST00000675906.1:c.365-1G>A ENSP00000502714.1:n.365-1G>A
ENST00000676195.1:n.81-1G>A
ENST00000676231.1:c.395-1G>A ENSP00000502249.1:n.395-1G>A
ENST00000248553.6:c.365-1G>A ENSP00000248553.6:n.365-1G>A
ENST00000429938.1:c.-140-1G>A ENSP00000405285.1:n.-140-1G>A
ENST00000447574.1:c.*528G>A ENSP00000414357.1:n.*528G>A
NM_001540.3:c.365-1G>A , LRG_248t1:c.365-1G>A NP_001531.1:n.365-1G>A
NM_001540.4:c.365-1G>A NP_001531.1:n.365-1G>A
NM_001540.5:c.365-1G>A MANE Select NP_001531.1:n.365-1G>A