Canonical Allele Identifier: CA1879976977
Gene: FPGS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127813359C= , CM000671.2:g.127813359C= GRCh38
NC_000009.11:g.130575638C= , CM000671.1:g.130575638C= GRCh37
NC_000009.10:g.129615459C= NCBI36
NG_009551.1:g.46410G= , LRG_589:g.46410G=
NG_023245.1:g.15485C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000373247.7:c.1519C= MANE Select ENSP00000362344.2:p.Pro507=
ENST00000373225.7:c.1369C= ENSP00000362322.3:p.Pro457=
ENST00000373228.5:c.*176C= ENSP00000362325.1:n.*176C=
ENST00000373247.6:c.1519C= ENSP00000362344.2:p.Pro507=
ENST00000393706.6:c.1441C= ENSP00000377309.2:p.Pro481=
ENST00000460181.5:n.1507C=
ENST00000467826.5:n.709+36C=
ENST00000475270.1:n.345C=
ENST00000630236.2:c.*243C= ENSP00000486766.1:n.*243C=
NM_001018078.2:c.1369C= NP_001018088.1:p.Pro457=
NM_001288803.1:c.1441C= NP_001275732.1:p.Pro481=
NM_004957.5:c.1519C= NP_004948.4:p.Pro507=
NR_110170.1:n.1567C=
XM_005251864.2:c.1483+36C= XP_005251921.1:n.1483+36C=
XM_011518437.1:c.1369C= XP_011516739.1:p.Pro457=
XM_011518438.1:c.1369C= XP_011516740.1:p.Pro457=
XM_011518439.1:c.676C= XP_011516741.1:p.Pro226=
XR_242581.2:n.1416C=
XR_242582.2:n.1380+36C=
XM_005251864.4:c.1483+36C= XP_005251921.1:n.1483+36C=
XM_011518439.2:c.676C= XP_011516741.1:p.Pro226=
XM_017014565.2:c.1333+36C= XP_016870054.1:n.1333+36C=
XM_017014566.1:c.676C= XP_016870055.1:p.Pro226=
XR_242581.4:n.1414C=
XR_242582.4:n.1378+36C=
NM_004957.6:c.1519C= MANE Select NP_004948.4:p.Pro507=