Canonical Allele Identifier: CA1718330655
Gene: HSPB1 HGNC NCBI

Linked Data

dbSNP Id: rs1803056223
gnomAD v4: 7-76303739-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303739G>A , CM000669.2:g.76303739G>A GRCh38
NC_000007.13:g.75933056G>A , CM000669.1:g.75933056G>A GRCh37
NC_000007.12:g.75770992G>A NCBI36
NG_008995.1:g.6182G>A , LRG_248:g.6182G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248553.7:c.365-63G>A MANE Select ENSP00000248553.6:n.365-63G>A
ENST00000674547.1:c.365-63G>A ENSP00000502461.1:n.365-63G>A
ENST00000674638.1:c.365-68G>A ENSP00000502651.1:n.365-68G>A
ENST00000674650.1:c.365-245G>A ENSP00000501628.1:n.365-245G>A
ENST00000674965.1:c.365-38G>A ENSP00000501765.1:n.365-38G>A
ENST00000675134.1:c.365-63G>A ENSP00000501831.1:n.365-63G>A
ENST00000675226.1:c.369-68G>A ENSP00000502510.1:n.369-68G>A
ENST00000675417.1:n.535G>A
ENST00000675538.1:c.400-63G>A ENSP00000502495.1:n.400-63G>A
ENST00000675733.1:n.405-23G>A
ENST00000675906.1:c.365-63G>A ENSP00000502714.1:n.365-63G>A
ENST00000676195.1:n.81-63G>A
ENST00000676231.1:c.394+12G>A ENSP00000502249.1:n.394+12G>A
ENST00000248553.6:c.365-63G>A ENSP00000248553.6:n.365-63G>A
ENST00000429938.1:c.-141+12G>A ENSP00000405285.1:n.-141+12G>A
ENST00000447574.1:c.*466G>A ENSP00000414357.1:n.*466G>A
NM_001540.3:c.365-63G>A , LRG_248t1:c.365-63G>A NP_001531.1:n.365-63G>A
NM_001540.4:c.365-63G>A NP_001531.1:n.365-63G>A
NM_001540.5:c.365-63G>A MANE Select NP_001531.1:n.365-63G>A