Canonical Allele Identifier: CA406497314

Gene: FKRP

Linked Data

• gnomAD v4: 19-46756862-T-C
• MyVariant Identifiers: chr19:g.47260119T>C (hg19) ; chr19:g.46756862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.46756862T>C , CM000681.2:g.46756862T>C	GRCh38
NC_000019.9:g.47260119T>C , CM000681.1:g.47260119T>C	GRCh37
NC_000019.8:g.51951959T>C	NCBI36
NG_008898.2:g.15817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318584.10:c.1412T>C MANE Select	ENSP00000326570.4:p.Leu471Pro
ENST00000318584.9:c.1412T>C	ENSP00000326570.4:p.Leu471Pro
ENST00000391909.7:c.1412T>C	ENSP00000375776.2:p.Leu471Pro
ENST00000597339.5:n.247-4971T>C
ENST00000600646.5:n.247+8197T>C
NM_001039885.2:c.1412T>C	NP_001034974.1:p.Leu471Pro
NM_024301.4:c.1412T>C	NP_077277.1:p.Leu471Pro
XM_005259247.1:c.1412T>C	XP_005259304.1:p.Leu471Pro
XM_005259248.1:c.1412T>C	XP_005259305.1:p.Leu471Pro
XM_005259249.3:c.1412T>C	XP_005259306.1:p.Leu471Pro
XM_005259250.3:c.1412T>C	XP_005259307.1:p.Leu471Pro
XM_011527301.1:c.1412T>C	XP_011525603.1:p.Leu471Pro
XM_011527302.1:c.1412T>C	XP_011525604.1:p.Leu471Pro
XM_011527303.1:c.1412T>C	XP_011525605.1:p.Leu471Pro
XM_011527304.1:c.1412T>C	XP_011525606.1:p.Leu471Pro
XM_011527305.1:c.1412T>C	XP_011525607.1:p.Leu471Pro
XM_011527306.1:c.1412T>C	XP_011525608.1:p.Leu471Pro
XM_011527307.1:c.1412T>C	XP_011525609.1:p.Leu471Pro
XM_005259247.2:c.1412T>C	XP_005259304.1:p.Leu471Pro
XM_005259248.2:c.1412T>C	XP_005259305.1:p.Leu471Pro
XM_005259249.4:c.1412T>C	XP_005259306.1:p.Leu471Pro
XM_011527306.2:c.1412T>C	XP_011525608.1:p.Leu471Pro
XM_017027297.2:c.1412T>C	XP_016882786.1:p.Leu471Pro
XM_024451707.1:c.1412T>C	XP_024307475.1:p.Leu471Pro
NM_001039885.3:c.1412T>C	NP_001034974.1:p.Leu471Pro
NM_024301.5:c.1412T>C MANE Select	NP_077277.1:p.Leu471Pro