Canonical Allele Identifier: CA116716
Gene: FKRP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 4229
dbSNP Id: rs104894683

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46755685G>A , CM000681.2:g.46755685G>A GRCh38
NC_000019.9:g.47258942G>A , CM000681.1:g.47258942G>A GRCh37
NC_000019.8:g.51950782G>A NCBI36
NG_008898.2:g.14640G>A

Transcript Alleles

HGVS Amino-acid change
NM_001039885.2:c.235G>A VV NP_001034974.1:p.Val79Met
NM_024301.4:c.235G>A VV NP_077277.1:p.Val79Met
XM_005259247.1:c.235G>A XP_005259304.1:p.Val79Met
XM_005259248.1:c.235G>A XP_005259305.1:p.Val79Met
XM_005259249.3:c.235G>A XP_005259306.1:p.Val79Met
XM_005259250.3:c.235G>A XP_005259307.1:p.Val79Met
XM_011527301.1:c.235G>A XP_011525603.1:p.Val79Met
XM_011527302.1:c.235G>A XP_011525604.1:p.Val79Met
XM_011527303.1:c.235G>A XP_011525605.1:p.Val79Met
XM_011527304.1:c.235G>A XP_011525606.1:p.Val79Met
XM_011527305.1:c.235G>A XP_011525607.1:p.Val79Met
XM_011527306.1:c.235G>A XP_011525608.1:p.Val79Met
XM_011527307.1:c.235G>A XP_011525609.1:p.Val79Met
XM_005259247.2:c.235G>A
XM_005259248.2:c.235G>A
XM_005259249.4:c.235G>A
XM_011527306.2:c.235G>A
XM_017027297.2:c.235G>A XP_016882786.1:p.Val79Met
XM_024451707.1:c.235G>A XP_024307475.1:p.Val79Met
ENST00000318584.9:c.235G>A ENSP00000326570.4:p.Val79Met
ENST00000391909.7:c.235G>A ENSP00000375776.2:p.Val79Met
ENST00000593800.5:c.235G>A ENSP00000471209.1:p.Val79Met
ENST00000593875.5:c.235G>A ENSP00000470297.1:p.Val79Met
ENST00000593902.1:c.235G>A ENSP00000470901.1:p.Val79Met
ENST00000594467.5:c.-195G>A ENSP00000471971.1:p.=
ENST00000596974.5:n.461G>A
ENST00000597339.5:n.247-6148G>A
ENST00000600005.5:c.235G>A ENSP00000470335.1:p.Val79Met
ENST00000600227.5:c.235G>A ENSP00000468825.1:p.Val79Met
ENST00000600629.5:c.235G>A ENSP00000470096.1:p.Val79Met
ENST00000600646.5:n.247+7020G>A
ENST00000601299.5:c.235G>A ENSP00000470103.1:p.Val79Met
ENST00000602181.5:c.235G>A ENSP00000472981.1:p.Val79Met