Canonical Allele Identifier: CA1879976905

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813343T= , CM000671.2:g.127813343T=	GRCh38
NC_000009.11:g.130575622T= , CM000671.1:g.130575622T=	GRCh37
NC_000009.10:g.129615443T=	NCBI36
NG_009551.1:g.46426A= , LRG_589:g.46426A=
NG_023245.1:g.15469T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1503T= MANE Select	ENSP00000362344.2:p.Leu501=
ENST00000373225.7:c.1353T=	ENSP00000362322.3:p.Leu451=
ENST00000373228.5:c.*160T=	ENSP00000362325.1:n.*160T=
ENST00000373247.6:c.1503T=	ENSP00000362344.2:p.Leu501=
ENST00000393706.6:c.1425T=	ENSP00000377309.2:p.Leu475=
ENST00000460181.5:n.1491T=
ENST00000467826.5:n.709+20T=
ENST00000475270.1:n.329T=
ENST00000630236.2:c.*227T=	ENSP00000486766.1:n.*227T=
NM_001018078.2:c.1353T=	NP_001018088.1:p.Leu451=
NM_001288803.1:c.1425T=	NP_001275732.1:p.Leu475=
NM_004957.5:c.1503T=	NP_004948.4:p.Leu501=
NR_110170.1:n.1551T=
XM_005251864.2:c.1483+20T=	XP_005251921.1:n.1483+20T=
XM_011518437.1:c.1353T=	XP_011516739.1:p.Leu451=
XM_011518438.1:c.1353T=	XP_011516740.1:p.Leu451=
XM_011518439.1:c.660T=	XP_011516741.1:p.Leu220=
XR_242581.2:n.1400T=
XR_242582.2:n.1380+20T=
XM_005251864.4:c.1483+20T=	XP_005251921.1:n.1483+20T=
XM_011518439.2:c.660T=	XP_011516741.1:p.Leu220=
XM_017014565.2:c.1333+20T=	XP_016870054.1:n.1333+20T=
XM_017014566.1:c.660T=	XP_016870055.1:p.Leu220=
XR_242581.4:n.1398T=
XR_242582.4:n.1378+20T=
NM_004957.6:c.1503T= MANE Select	NP_004948.4:p.Leu501=