Canonical Allele Identifier: CA1879977049

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813391C= , CM000671.2:g.127813391C=	GRCh38
NC_000009.11:g.130575670C= , CM000671.1:g.130575670C=	GRCh37
NC_000009.10:g.129615491C=	NCBI36
NG_009551.1:g.46378G= , LRG_589:g.46378G=
NG_023245.1:g.15517C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1551C= MANE Select	ENSP00000362344.2:p.Phe517=
ENST00000373225.7:c.1401C=	ENSP00000362322.3:p.Phe467=
ENST00000373228.5:c.*208C=	ENSP00000362325.1:n.*208C=
ENST00000373247.6:c.1551C=	ENSP00000362344.2:p.Phe517=
ENST00000393706.6:c.1473C=	ENSP00000377309.2:p.Phe491=
ENST00000460181.5:n.1539C=
ENST00000467826.5:n.709+68C=
ENST00000475270.1:n.377C=
ENST00000630236.2:c.*275C=	ENSP00000486766.1:n.*275C=
NM_001018078.2:c.1401C=	NP_001018088.1:p.Phe467=
NM_001288803.1:c.1473C=	NP_001275732.1:p.Phe491=
NM_004957.5:c.1551C=	NP_004948.4:p.Phe517=
NR_110170.1:n.1599C=
XM_005251864.2:c.1483+68C=	XP_005251921.1:n.1483+68C=
XM_011518437.1:c.1401C=	XP_011516739.1:p.Phe467=
XM_011518438.1:c.1401C=	XP_011516740.1:p.Phe467=
XM_011518439.1:c.708C=	XP_011516741.1:p.Phe236=
XR_242581.2:n.1448C=
XR_242582.2:n.1380+68C=
XM_005251864.4:c.1483+68C=	XP_005251921.1:n.1483+68C=
XM_011518439.2:c.708C=	XP_011516741.1:p.Phe236=
XM_017014565.2:c.1333+68C=	XP_016870054.1:n.1333+68C=
XM_017014566.1:c.708C=	XP_016870055.1:p.Phe236=
XR_242581.4:n.1446C=
XR_242582.4:n.1378+68C=
NM_004957.6:c.1551C= MANE Select	NP_004948.4:p.Phe517=