Canonical Allele Identifier: CA16616284

Gene: FKRP

Linked Data

• ClinVar Variation Id: 408719
• ClinVar RCV Id: RCV000465267 ; RCV001828467
• dbSNP Id: rs1060502108
• gnomAD v4: 19-46755463-C-T
• MyVariant Identifiers: chr19:g.47258720C>T (hg19) ; chr19:g.46755463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46755463C>T , CM000681.2:g.46755463C>T	GRCh38
NC_000019.9:g.47258720C>T , CM000681.1:g.47258720C>T	GRCh37
NC_000019.8:g.51950560C>T	NCBI36
NG_008898.2:g.14418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.13C>T MANE Select	ENSP00000326570.4:p.Arg5Cys
ENST00000318584.9:c.13C>T	ENSP00000326570.4:p.Arg5Cys
ENST00000391909.7:c.13C>T	ENSP00000375776.2:p.Arg5Cys
ENST00000593800.5:c.13C>T	ENSP00000471209.1:p.Arg5Cys
ENST00000593875.5:c.13C>T	ENSP00000470297.1:p.Arg5Cys
ENST00000593877.1:c.13C>T
ENST00000593902.1:c.13C>T	ENSP00000470901.1:p.Arg5Cys
ENST00000594467.5:c.-345-72C>T	ENSP00000471971.1:n.-345-72C>T
ENST00000595570.5:c.13C>T	ENSP00000470929.1:p.Arg5Cys
ENST00000595868.5:c.13C>T	ENSP00000471573.1:p.Arg5Cys
ENST00000596460.5:c.13C>T	ENSP00000469373.1:p.Arg5Cys
ENST00000596974.5:n.311-72C>T
ENST00000597313.5:c.13C>T	ENSP00000472370.1:p.Arg5Cys
ENST00000597339.5:n.247-6370C>T
ENST00000598271.5:c.13C>T	ENSP00000471088.1:p.Arg5Cys
ENST00000600005.5:c.13C>T	ENSP00000470335.1:p.Arg5Cys
ENST00000600227.5:c.13C>T	ENSP00000468825.1:p.Arg5Cys
ENST00000600629.5:c.13C>T	ENSP00000470096.1:p.Arg5Cys
ENST00000600646.5:n.247+6798C>T
ENST00000600834.5:c.13C>T	ENSP00000470024.1:p.Arg5Cys
ENST00000601299.5:c.13C>T	ENSP00000470103.1:p.Arg5Cys
ENST00000602181.5:c.13C>T	ENSP00000472981.1:p.Arg5Cys
ENST00000602250.5:c.13C>T	ENSP00000472807.1:p.Arg5Cys
NM_001039885.2:c.13C>T	NP_001034974.1:p.Arg5Cys
NM_024301.4:c.13C>T	NP_077277.1:p.Arg5Cys
XM_005259247.1:c.13C>T	XP_005259304.1:p.Arg5Cys
XM_005259248.1:c.13C>T	XP_005259305.1:p.Arg5Cys
XM_005259249.3:c.13C>T	XP_005259306.1:p.Arg5Cys
XM_005259250.3:c.13C>T	XP_005259307.1:p.Arg5Cys
XM_011527301.1:c.13C>T	XP_011525603.1:p.Arg5Cys
XM_011527302.1:c.13C>T	XP_011525604.1:p.Arg5Cys
XM_011527303.1:c.13C>T	XP_011525605.1:p.Arg5Cys
XM_011527304.1:c.13C>T	XP_011525606.1:p.Arg5Cys
XM_011527305.1:c.13C>T	XP_011525607.1:p.Arg5Cys
XM_011527306.1:c.13C>T	XP_011525608.1:p.Arg5Cys
XM_011527307.1:c.13C>T	XP_011525609.1:p.Arg5Cys
XM_005259247.2:c.13C>T	XP_005259304.1:p.Arg5Cys
XM_005259248.2:c.13C>T	XP_005259305.1:p.Arg5Cys
XM_005259249.4:c.13C>T	XP_005259306.1:p.Arg5Cys
XM_011527306.2:c.13C>T	XP_011525608.1:p.Arg5Cys
XM_017027297.2:c.13C>T	XP_016882786.1:p.Arg5Cys
XM_024451707.1:c.13C>T	XP_024307475.1:p.Arg5Cys
NM_001039885.3:c.13C>T	NP_001034974.1:p.Arg5Cys
NM_024301.5:c.13C>T MANE Select	NP_077277.1:p.Arg5Cys