Canonical Allele Identifier: CA1879977045

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813386G= , CM000671.2:g.127813386G=	GRCh38
NC_000009.11:g.130575665G= , CM000671.1:g.130575665G=	GRCh37
NC_000009.10:g.129615486G=	NCBI36
NG_009551.1:g.46383C= , LRG_589:g.46383C=
NG_023245.1:g.15512G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1546G= MANE Select	ENSP00000362344.2:p.Val516=
ENST00000373225.7:c.1396G=	ENSP00000362322.3:p.Val466=
ENST00000373228.5:c.*203G=	ENSP00000362325.1:n.*203G=
ENST00000373247.6:c.1546G=	ENSP00000362344.2:p.Val516=
ENST00000393706.6:c.1468G=	ENSP00000377309.2:p.Val490=
ENST00000460181.5:n.1534G=
ENST00000467826.5:n.709+63G=
ENST00000475270.1:n.372G=
ENST00000630236.2:c.*270G=	ENSP00000486766.1:n.*270G=
NM_001018078.2:c.1396G=	NP_001018088.1:p.Val466=
NM_001288803.1:c.1468G=	NP_001275732.1:p.Val490=
NM_004957.5:c.1546G=	NP_004948.4:p.Val516=
NR_110170.1:n.1594G=
XM_005251864.2:c.1483+63G=	XP_005251921.1:n.1483+63G=
XM_011518437.1:c.1396G=	XP_011516739.1:p.Val466=
XM_011518438.1:c.1396G=	XP_011516740.1:p.Val466=
XM_011518439.1:c.703G=	XP_011516741.1:p.Val235=
XR_242581.2:n.1443G=
XR_242582.2:n.1380+63G=
XM_005251864.4:c.1483+63G=	XP_005251921.1:n.1483+63G=
XM_011518439.2:c.703G=	XP_011516741.1:p.Val235=
XM_017014565.2:c.1333+63G=	XP_016870054.1:n.1333+63G=
XM_017014566.1:c.703G=	XP_016870055.1:p.Val235=
XR_242581.4:n.1441G=
XR_242582.4:n.1378+63G=
NM_004957.6:c.1546G= MANE Select	NP_004948.4:p.Val516=