Canonical Allele Identifier: CA1879977139

Gene: FPGS

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813435A= , CM000671.2:g.127813435A=	GRCh38
NC_000009.11:g.130575714A= , CM000671.1:g.130575714A=	GRCh37
NC_000009.10:g.129615535A=	NCBI36
NG_009551.1:g.46334T= , LRG_589:g.46334T=
NG_023245.1:g.15561A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1595A= MANE Select	ENSP00000362344.2:p.Asp532=
ENST00000373225.7:c.1445A=	ENSP00000362322.3:p.Asp482=
ENST00000373247.6:c.1595A=	ENSP00000362344.2:p.Asp532=
ENST00000393706.6:c.1517A=	ENSP00000377309.2:p.Asp506=
ENST00000460181.5:n.1583A=
ENST00000467826.5:n.709+112A=
ENST00000475270.1:n.421A=
ENST00000630236.2:c.*319A=	ENSP00000486766.1:n.*319A=
NM_001018078.2:c.1445A=	NP_001018088.1:p.Asp482=
NM_001288803.1:c.1517A=	NP_001275732.1:p.Asp506=
NM_004957.5:c.1595A=	NP_004948.4:p.Asp532=
NR_110170.1:n.1643A=
XM_005251864.2:c.1483+112A=	XP_005251921.1:n.1483+112A=
XM_011518437.1:c.1445A=	XP_011516739.1:p.Asp482=
XM_011518438.1:c.1445A=	XP_011516740.1:p.Asp482=
XM_011518439.1:c.752A=	XP_011516741.1:p.Asp251=
XR_242581.2:n.1492A=
XR_242582.2:n.1380+112A=
XM_005251864.4:c.1483+112A=	XP_005251921.1:n.1483+112A=
XM_011518439.2:c.752A=	XP_011516741.1:p.Asp251=
XM_017014565.2:c.1333+112A=	XP_016870054.1:n.1333+112A=
XM_017014566.1:c.752A=	XP_016870055.1:p.Asp251=
XR_242581.4:n.1490A=
XR_242582.4:n.1378+112A=
NM_004957.6:c.1595A= MANE Select	NP_004948.4:p.Asp532=