Canonical Allele Identifier: CA1879977421

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813604G= , CM000671.2:g.127813604G=	GRCh38
NC_000009.11:g.130575883G= , CM000671.1:g.130575883G=	GRCh37
NC_000009.10:g.129615704G=	NCBI36
NG_009551.1:g.46165C= , LRG_589:g.46165C=
NG_023245.1:g.15730G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1764G= MANE Select	ENSP00000362344.2:p.Ter588=
ENST00000373225.7:c.1614G=	ENSP00000362322.3:p.Ter538=
ENST00000373247.6:c.1764G=	ENSP00000362344.2:p.Ter588=
ENST00000393706.6:c.1686G=	ENSP00000377309.2:p.Ter562=
ENST00000460181.5:n.1752G=
ENST00000467826.5:n.709+281G=
ENST00000630236.2:c.*488G=	ENSP00000486766.1:n.*488G=
NM_001018078.2:c.1614G=	NP_001018088.1:p.Ter538=
NM_001288803.1:c.1686G=	NP_001275732.1:p.Ter562=
NM_004957.5:c.1764G=	NP_004948.4:p.Ter588=
NR_110170.1:n.1812G=
XM_005251864.2:c.1483+281G=	XP_005251921.1:n.1483+281G=
XM_011518437.1:c.1614G=	XP_011516739.1:p.Ter538=
XM_011518438.1:c.1614G=	XP_011516740.1:p.Ter538=
XM_011518439.1:c.921G=	XP_011516741.1:p.Ter307=
XR_242581.2:n.1661G=
XR_242582.2:n.1380+281G=
XM_005251864.4:c.1483+281G=	XP_005251921.1:n.1483+281G=
XM_011518439.2:c.921G=	XP_011516741.1:p.Ter307=
XM_017014565.2:c.1333+281G=	XP_016870054.1:n.1333+281G=
XM_017014566.1:c.921G=	XP_016870055.1:p.Ter307=
XR_242581.4:n.1659G=
XR_242582.4:n.1378+281G=
NM_004957.6:c.1764G= MANE Select	NP_004948.4:p.Ter588=