Canonical Allele Identifier: CA118834
Gene: HSPB1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7485
ClinVar RCV Id: RCV000007913
dbSNP Id: rs121909113

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.76303007C>A , CM000669.2:g.76303007C>A GRCh38
NC_000007.12:g.75770260C>A NCBI36
NC_000007.13:g.75932324C>A , CM000669.1:g.75932324C>A GRCh37
NG_008995.1:g.5450C>A , LRG_248:g.5450C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000248553.6:c.295C>A ENSP00000248553.6:p.Leu99Met
ENST00000447574.1:c.295C>A ENSP00000414357.1:p.Leu99Met
NM_001540.3:c.295C>A , LRG_248t1:c.295C>A NP_001531.1:p.Leu99Met