Canonical Allele Identifier: CA1103330265
Gene: HSPB1 HGNC NCBI

Linked Data

dbSNP Id: rs145206720
gnomAD v3: 7-76303731-G-A
gnomAD v4: 7-76303731-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303731G>A , CM000669.2:g.76303731G>A GRCh38
NC_000007.13:g.75933048G>A , CM000669.1:g.75933048G>A GRCh37
NC_000007.12:g.75770984G>A NCBI36
NG_008995.1:g.6174G>A , LRG_248:g.6174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.365-71G>A MANE Select ENSP00000248553.6:n.365-71G>A
ENST00000674547.1:c.365-71G>A ENSP00000502461.1:n.365-71G>A
ENST00000674638.1:c.365-76G>A ENSP00000502651.1:n.365-76G>A
ENST00000674650.1:c.365-253G>A ENSP00000501628.1:n.365-253G>A
ENST00000674965.1:c.365-46G>A ENSP00000501765.1:n.365-46G>A
ENST00000675134.1:c.365-71G>A ENSP00000501831.1:n.365-71G>A
ENST00000675226.1:c.369-76G>A ENSP00000502510.1:n.369-76G>A
ENST00000675417.1:n.527G>A
ENST00000675538.1:c.400-71G>A ENSP00000502495.1:n.400-71G>A
ENST00000675733.1:n.405-31G>A
ENST00000675906.1:c.365-71G>A ENSP00000502714.1:n.365-71G>A
ENST00000676195.1:n.81-71G>A
ENST00000676231.1:c.394+4G>A ENSP00000502249.1:n.394+4G>A
ENST00000248553.6:c.365-71G>A ENSP00000248553.6:n.365-71G>A
ENST00000429938.1:c.-141+4G>A ENSP00000405285.1:n.-141+4G>A
ENST00000447574.1:c.*458G>A ENSP00000414357.1:n.*458G>A
NM_001540.3:c.365-71G>A , LRG_248t1:c.365-71G>A NP_001531.1:n.365-71G>A
NM_001540.4:c.365-71G>A NP_001531.1:n.365-71G>A
NM_001540.5:c.365-71G>A MANE Select NP_001531.1:n.365-71G>A