Canonical Allele Identifier: CA116726
Gene: FKRP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4234
ClinVar RCV Id: RCV000004456
dbSNP Id: rs104894684

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46756403G>A , CM000681.2:g.46756403G>A GRCh38
NC_000019.8:g.51951500G>A NCBI36
NC_000019.9:g.47259660G>A , CM000681.1:g.47259660G>A GRCh37
NG_008898.2:g.15358G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318584.9:c.953G>A ENSP00000326570.4:p.Cys318Tyr
ENST00000391909.7:c.953G>A ENSP00000375776.2:p.Cys318Tyr
ENST00000597339.5:n.247-5430G>A
ENST00000600646.5:n.247+7738G>A
NM_001039885.2:c.953G>A VV NP_001034974.1:p.Cys318Tyr
NM_024301.4:c.953G>A VV NP_077277.1:p.Cys318Tyr
XM_005259247.1:c.953G>A XP_005259304.1:p.Cys318Tyr
XM_005259248.1:c.953G>A XP_005259305.1:p.Cys318Tyr
XM_005259249.3:c.953G>A XP_005259306.1:p.Cys318Tyr
XM_005259250.3:c.953G>A XP_005259307.1:p.Cys318Tyr
XM_011527301.1:c.953G>A XP_011525603.1:p.Cys318Tyr
XM_011527302.1:c.953G>A XP_011525604.1:p.Cys318Tyr
XM_011527303.1:c.953G>A XP_011525605.1:p.Cys318Tyr
XM_011527304.1:c.953G>A XP_011525606.1:p.Cys318Tyr
XM_011527305.1:c.953G>A XP_011525607.1:p.Cys318Tyr
XM_011527306.1:c.953G>A XP_011525608.1:p.Cys318Tyr
XM_011527307.1:c.953G>A XP_011525609.1:p.Cys318Tyr
XM_005259247.2:c.953G>A
XM_005259248.2:c.953G>A
XM_005259249.4:c.953G>A
XM_011527306.2:c.953G>A
XM_017027297.2:c.953G>A XP_016882786.1:p.Cys318Tyr
XM_024451707.1:c.953G>A XP_024307475.1:p.Cys318Tyr