Canonical Allele Identifier: CA1879976939
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813351C= , CM000671.2:g.127813351C= GRCh38
NC_000009.11:g.130575630C= , CM000671.1:g.130575630C= GRCh37
NC_000009.10:g.129615451C= NCBI36
NG_009551.1:g.46418G= , LRG_589:g.46418G=
NG_023245.1:g.15477C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1511C= MANE Select ENSP00000362344.2:p.Pro504=
ENST00000373225.7:c.1361C= ENSP00000362322.3:p.Pro454=
ENST00000373228.5:c.*168C= ENSP00000362325.1:n.*168C=
ENST00000373247.6:c.1511C= ENSP00000362344.2:p.Pro504=
ENST00000393706.6:c.1433C= ENSP00000377309.2:p.Pro478=
ENST00000460181.5:n.1499C=
ENST00000467826.5:n.709+28C=
ENST00000475270.1:n.337C=
ENST00000630236.2:c.*235C= ENSP00000486766.1:n.*235C=
NM_001018078.2:c.1361C= NP_001018088.1:p.Pro454=
NM_001288803.1:c.1433C= NP_001275732.1:p.Pro478=
NM_004957.5:c.1511C= NP_004948.4:p.Pro504=
NR_110170.1:n.1559C=
XM_005251864.2:c.1483+28C= XP_005251921.1:n.1483+28C=
XM_011518437.1:c.1361C= XP_011516739.1:p.Pro454=
XM_011518438.1:c.1361C= XP_011516740.1:p.Pro454=
XM_011518439.1:c.668C= XP_011516741.1:p.Pro223=
XR_242581.2:n.1408C=
XR_242582.2:n.1380+28C=
XM_005251864.4:c.1483+28C= XP_005251921.1:n.1483+28C=
XM_011518439.2:c.668C= XP_011516741.1:p.Pro223=
XM_017014565.2:c.1333+28C= XP_016870054.1:n.1333+28C=
XM_017014566.1:c.668C= XP_016870055.1:p.Pro223=
XR_242581.4:n.1406C=
XR_242582.4:n.1378+28C=
NM_004957.6:c.1511C= MANE Select NP_004948.4:p.Pro504=