Canonical Allele Identifier: CA1879976889

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813338C= , CM000671.2:g.127813338C=	GRCh38
NC_000009.11:g.130575617C= , CM000671.1:g.130575617C=	GRCh37
NC_000009.10:g.129615438C=	NCBI36
NG_009551.1:g.46431G= , LRG_589:g.46431G=
NG_023245.1:g.15464C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1498C= MANE Select	ENSP00000362344.2:p.Leu500=
ENST00000373225.7:c.1348C=	ENSP00000362322.3:p.Leu450=
ENST00000373228.5:c.*155C=	ENSP00000362325.1:n.*155C=
ENST00000373247.6:c.1498C=	ENSP00000362344.2:p.Leu500=
ENST00000393706.6:c.1420C=	ENSP00000377309.2:p.Leu474=
ENST00000460181.5:n.1486C=
ENST00000467826.5:n.709+15C=
ENST00000475270.1:n.324C=
ENST00000630236.2:c.*222C=	ENSP00000486766.1:n.*222C=
NM_001018078.2:c.1348C=	NP_001018088.1:p.Leu450=
NM_001288803.1:c.1420C=	NP_001275732.1:p.Leu474=
NM_004957.5:c.1498C=	NP_004948.4:p.Leu500=
NR_110170.1:n.1546C=
XM_005251864.2:c.1483+15C=	XP_005251921.1:n.1483+15C=
XM_011518437.1:c.1348C=	XP_011516739.1:p.Leu450=
XM_011518438.1:c.1348C=	XP_011516740.1:p.Leu450=
XM_011518439.1:c.655C=	XP_011516741.1:p.Leu219=
XR_242581.2:n.1395C=
XR_242582.2:n.1380+15C=
XM_005251864.4:c.1483+15C=	XP_005251921.1:n.1483+15C=
XM_011518439.2:c.655C=	XP_011516741.1:p.Leu219=
XM_017014565.2:c.1333+15C=	XP_016870054.1:n.1333+15C=
XM_017014566.1:c.655C=	XP_016870055.1:p.Leu219=
XR_242581.4:n.1393C=
XR_242582.4:n.1378+15C=
NM_004957.6:c.1498C= MANE Select	NP_004948.4:p.Leu500=