Canonical Allele Identifier: CA507976087

Gene: FKRP

Linked Data

• ClinVar Variation Id: 1082315
• ClinVar RCV Id: RCV001398590
• dbSNP Id: rs2122620960
• gnomAD v4: 19-46756116-C-T
• MyVariant Identifiers: chr19:g.47259373C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756116C>T , CM000681.2:g.46756116C>T	GRCh38
NC_000019.9:g.47259373C>T , CM000681.1:g.47259373C>T	GRCh37
NC_000019.8:g.51951213C>T	NCBI36
NG_008898.2:g.15071C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318584.10:c.666C>T MANE Select	ENSP00000326570.4:p.Leu222=
ENST00000318584.9:c.666C>T	ENSP00000326570.4:p.Leu222=
ENST00000391909.7:c.666C>T	ENSP00000375776.2:p.Leu222=
ENST00000597339.5:n.247-5717C>T
ENST00000600646.5:n.247+7451C>T
NM_001039885.2:c.666C>T	NP_001034974.1:p.Leu222=
NM_024301.4:c.666C>T	NP_077277.1:p.Leu222=
XM_005259247.1:c.666C>T	XP_005259304.1:p.Leu222=
XM_005259248.1:c.666C>T	XP_005259305.1:p.Leu222=
XM_005259249.3:c.666C>T	XP_005259306.1:p.Leu222=
XM_005259250.3:c.666C>T	XP_005259307.1:p.Leu222=
XM_011527301.1:c.666C>T	XP_011525603.1:p.Leu222=
XM_011527302.1:c.666C>T	XP_011525604.1:p.Leu222=
XM_011527303.1:c.666C>T	XP_011525605.1:p.Leu222=
XM_011527304.1:c.666C>T	XP_011525606.1:p.Leu222=
XM_011527305.1:c.666C>T	XP_011525607.1:p.Leu222=
XM_011527306.1:c.666C>T	XP_011525608.1:p.Leu222=
XM_011527307.1:c.666C>T	XP_011525609.1:p.Leu222=
XM_005259247.2:c.666C>T	XP_005259304.1:p.Leu222=
XM_005259248.2:c.666C>T	XP_005259305.1:p.Leu222=
XM_005259249.4:c.666C>T	XP_005259306.1:p.Leu222=
XM_011527306.2:c.666C>T	XP_011525608.1:p.Leu222=
XM_017027297.2:c.666C>T	XP_016882786.1:p.Leu222=
XM_024451707.1:c.666C>T	XP_024307475.1:p.Leu222=
NM_001039885.3:c.666C>T	NP_001034974.1:p.Leu222=
NM_024301.5:c.666C>T MANE Select	NP_077277.1:p.Leu222=