Canonical Allele Identifier: CA467474132

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575706A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813427A>G , CM000671.2:g.127813427A>G	GRCh38
NC_000009.11:g.130575706A>G , CM000671.1:g.130575706A>G	GRCh37
NC_000009.10:g.129615527A>G	NCBI36
NG_009551.1:g.46342T>C , LRG_589:g.46342T>C
NG_023245.1:g.15553A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1587A>G MANE Select	ENSP00000362344.2:p.Gln529=
ENST00000373225.7:c.1437A>G	ENSP00000362322.3:p.Gln479=
ENST00000373247.6:c.1587A>G	ENSP00000362344.2:p.Gln529=
ENST00000393706.6:c.1509A>G	ENSP00000377309.2:p.Gln503=
ENST00000460181.5:n.1575A>G
ENST00000467826.5:n.709+104A>G
ENST00000475270.1:n.413A>G
ENST00000630236.2:c.*311A>G	ENSP00000486766.1:n.*311A>G
NM_001018078.2:c.1437A>G	NP_001018088.1:p.Gln479=
NM_001288803.1:c.1509A>G	NP_001275732.1:p.Gln503=
NM_004957.5:c.1587A>G	NP_004948.4:p.Gln529=
NR_110170.1:n.1635A>G
XM_005251864.2:c.1483+104A>G	XP_005251921.1:n.1483+104A>G
XM_011518437.1:c.1437A>G	XP_011516739.1:p.Gln479=
XM_011518438.1:c.1437A>G	XP_011516740.1:p.Gln479=
XM_011518439.1:c.744A>G	XP_011516741.1:p.Gln248=
XR_242581.2:n.1484A>G
XR_242582.2:n.1380+104A>G
XM_005251864.4:c.1483+104A>G	XP_005251921.1:n.1483+104A>G
XM_011518439.2:c.744A>G	XP_011516741.1:p.Gln248=
XM_017014565.2:c.1333+104A>G	XP_016870054.1:n.1333+104A>G
XM_017014566.1:c.744A>G	XP_016870055.1:p.Gln248=
XR_242581.4:n.1482A>G
XR_242582.4:n.1378+104A>G
NM_004957.6:c.1587A>G MANE Select	NP_004948.4:p.Gln529=