Canonical Allele Identifier: CA116708
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4225
ClinVar RCV Id: RCV000004446
dbSNP Id: rs28937902

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.46756113C>A , CM000681.2:g.46756113C>A GRCh38
NC_000019.9:g.47259370C>A , CM000681.1:g.47259370C>A GRCh37
NC_000019.8:g.51951210C>A NCBI36
NG_008898.2:g.15068C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000318584.10:c.663C>A MANE Select ENSP00000326570.4:p.Ser221Arg
ENST00000318584.9:c.663C>A ENSP00000326570.4:p.Ser221Arg
ENST00000391909.7:c.663C>A ENSP00000375776.2:p.Ser221Arg
ENST00000597339.5:n.247-5720C>A
ENST00000600646.5:n.247+7448C>A
NM_001039885.2:c.663C>A NP_001034974.1:p.Ser221Arg
NM_024301.4:c.663C>A NP_077277.1:p.Ser221Arg
XM_005259247.1:c.663C>A XP_005259304.1:p.Ser221Arg
XM_005259248.1:c.663C>A XP_005259305.1:p.Ser221Arg
XM_005259249.3:c.663C>A XP_005259306.1:p.Ser221Arg
XM_005259250.3:c.663C>A XP_005259307.1:p.Ser221Arg
XM_011527301.1:c.663C>A XP_011525603.1:p.Ser221Arg
XM_011527302.1:c.663C>A XP_011525604.1:p.Ser221Arg
XM_011527303.1:c.663C>A XP_011525605.1:p.Ser221Arg
XM_011527304.1:c.663C>A XP_011525606.1:p.Ser221Arg
XM_011527305.1:c.663C>A XP_011525607.1:p.Ser221Arg
XM_011527306.1:c.663C>A XP_011525608.1:p.Ser221Arg
XM_011527307.1:c.663C>A XP_011525609.1:p.Ser221Arg
XM_005259247.2:c.663C>A XP_005259304.1:p.Ser221Arg
XM_005259248.2:c.663C>A XP_005259305.1:p.Ser221Arg
XM_005259249.4:c.663C>A XP_005259306.1:p.Ser221Arg
XM_011527306.2:c.663C>A XP_011525608.1:p.Ser221Arg
XM_017027297.2:c.663C>A XP_016882786.1:p.Ser221Arg
XM_024451707.1:c.663C>A XP_024307475.1:p.Ser221Arg
NM_001039885.3:c.663C>A NP_001034974.1:p.Ser221Arg
NM_024301.5:c.663C>A MANE Select NP_077277.1:p.Ser221Arg