Canonical Allele Identifier: CA1879977065
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813398A= , CM000671.2:g.127813398A= GRCh38
NC_000009.11:g.130575677A= , CM000671.1:g.130575677A= GRCh37
NC_000009.10:g.129615498A= NCBI36
NG_009551.1:g.46371T= , LRG_589:g.46371T=
NG_023245.1:g.15524A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1558A= MANE Select ENSP00000362344.2:p.Ile520=
ENST00000373225.7:c.1408A= ENSP00000362322.3:p.Ile470=
ENST00000373228.5:c.*215A= ENSP00000362325.1:n.*215A=
ENST00000373247.6:c.1558A= ENSP00000362344.2:p.Ile520=
ENST00000393706.6:c.1480A= ENSP00000377309.2:p.Ile494=
ENST00000460181.5:n.1546A=
ENST00000467826.5:n.709+75A=
ENST00000475270.1:n.384A=
ENST00000630236.2:c.*282A= ENSP00000486766.1:n.*282A=
NM_001018078.2:c.1408A= NP_001018088.1:p.Ile470=
NM_001288803.1:c.1480A= NP_001275732.1:p.Ile494=
NM_004957.5:c.1558A= NP_004948.4:p.Ile520=
NR_110170.1:n.1606A=
XM_005251864.2:c.1483+75A= XP_005251921.1:n.1483+75A=
XM_011518437.1:c.1408A= XP_011516739.1:p.Ile470=
XM_011518438.1:c.1408A= XP_011516740.1:p.Ile470=
XM_011518439.1:c.715A= XP_011516741.1:p.Ile239=
XR_242581.2:n.1455A=
XR_242582.2:n.1380+75A=
XM_005251864.4:c.1483+75A= XP_005251921.1:n.1483+75A=
XM_011518439.2:c.715A= XP_011516741.1:p.Ile239=
XM_017014565.2:c.1333+75A= XP_016870054.1:n.1333+75A=
XM_017014566.1:c.715A= XP_016870055.1:p.Ile239=
XR_242581.4:n.1453A=
XR_242582.4:n.1378+75A=
NM_004957.6:c.1558A= MANE Select NP_004948.4:p.Ile520=