Canonical Allele Identifier: CA115642
Gene: HSPB8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2617
ClinVar RCV Id: RCV000002735
dbSNP Id: rs104894345

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.119187080G>C , CM000674.2:g.119187080G>C GRCh38
NC_000012.11:g.119624885G>C , CM000674.1:g.119624885G>C GRCh37
NC_000012.10:g.118109268G>C NCBI36
NG_007953.2:g.13291G>C , LRG_249:g.13291G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281938.7:c.423G>C MANE Select ENSP00000281938.3:p.Lys141Asn
ENST00000674542.1:c.368-6619G>C ENSP00000502352.1:n.368-6619G>C
ENST00000674715.1:n.596G>C
ENST00000674763.1:c.56G>C
ENST00000674852.1:c.56G>C
ENST00000675110.1:c.56G>C
ENST00000675211.1:c.56G>C
ENST00000675573.1:c.56G>C
ENST00000675900.1:n.21+5044G>C
ENST00000676071.1:n.156G>C
ENST00000676244.1:n.129G>C
ENST00000281938.6:c.423G>C ENSP00000281938.2:p.Lys141Asn
ENST00000541798.1:c.146G>C
ENST00000542496.1:n.281G>C
NM_014365.2:c.423G>C , LRG_249t1:c.423G>C NP_055180.1:p.Lys141Asn
NM_014365.3:c.423G>C MANE Select NP_055180.1:p.Lys141Asn