Canonical Allele Identifier: CA1879977104

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813413C= , CM000671.2:g.127813413C=	GRCh38
NC_000009.11:g.130575692C= , CM000671.1:g.130575692C=	GRCh37
NC_000009.10:g.129615513C=	NCBI36
NG_009551.1:g.46356G= , LRG_589:g.46356G=
NG_023245.1:g.15539C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1573C= MANE Select	ENSP00000362344.2:p.Gln525=
ENST00000373225.7:c.1423C=	ENSP00000362322.3:p.Gln475=
ENST00000373228.5:c.*230C=	ENSP00000362325.1:n.*230C=
ENST00000373247.6:c.1573C=	ENSP00000362344.2:p.Gln525=
ENST00000393706.6:c.1495C=	ENSP00000377309.2:p.Gln499=
ENST00000460181.5:n.1561C=
ENST00000467826.5:n.709+90C=
ENST00000475270.1:n.399C=
ENST00000630236.2:c.*297C=	ENSP00000486766.1:n.*297C=
NM_001018078.2:c.1423C=	NP_001018088.1:p.Gln475=
NM_001288803.1:c.1495C=	NP_001275732.1:p.Gln499=
NM_004957.5:c.1573C=	NP_004948.4:p.Gln525=
NR_110170.1:n.1621C=
XM_005251864.2:c.1483+90C=	XP_005251921.1:n.1483+90C=
XM_011518437.1:c.1423C=	XP_011516739.1:p.Gln475=
XM_011518438.1:c.1423C=	XP_011516740.1:p.Gln475=
XM_011518439.1:c.730C=	XP_011516741.1:p.Gln244=
XR_242581.2:n.1470C=
XR_242582.2:n.1380+90C=
XM_005251864.4:c.1483+90C=	XP_005251921.1:n.1483+90C=
XM_011518439.2:c.730C=	XP_011516741.1:p.Gln244=
XM_017014565.2:c.1333+90C=	XP_016870054.1:n.1333+90C=
XM_017014566.1:c.730C=	XP_016870055.1:p.Gln244=
XR_242581.4:n.1468C=
XR_242582.4:n.1378+90C=
NM_004957.6:c.1573C= MANE Select	NP_004948.4:p.Gln525=