Canonical Allele Identifier: CA374965606

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575700C>G (hg19) ; chr9:g.127813421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813421C>G , CM000671.2:g.127813421C>G	GRCh38
NC_000009.11:g.130575700C>G , CM000671.1:g.130575700C>G	GRCh37
NC_000009.10:g.129615521C>G	NCBI36
NG_009551.1:g.46348G>C , LRG_589:g.46348G>C
NG_023245.1:g.15547C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1581C>G MANE Select	ENSP00000362344.2:p.Ile527Met
ENST00000373225.7:c.1431C>G	ENSP00000362322.3:p.Ile477Met
ENST00000373228.5:c.*238C>G	ENSP00000362325.1:n.*238C>G
ENST00000373247.6:c.1581C>G	ENSP00000362344.2:p.Ile527Met
ENST00000393706.6:c.1503C>G	ENSP00000377309.2:p.Ile501Met
ENST00000460181.5:n.1569C>G
ENST00000467826.5:n.709+98C>G
ENST00000475270.1:n.407C>G
ENST00000630236.2:c.*305C>G	ENSP00000486766.1:n.*305C>G
NM_001018078.2:c.1431C>G	NP_001018088.1:p.Ile477Met
NM_001288803.1:c.1503C>G	NP_001275732.1:p.Ile501Met
NM_004957.5:c.1581C>G	NP_004948.4:p.Ile527Met
NR_110170.1:n.1629C>G
XM_005251864.2:c.1483+98C>G	XP_005251921.1:n.1483+98C>G
XM_011518437.1:c.1431C>G	XP_011516739.1:p.Ile477Met
XM_011518438.1:c.1431C>G	XP_011516740.1:p.Ile477Met
XM_011518439.1:c.738C>G	XP_011516741.1:p.Ile246Met
XR_242581.2:n.1478C>G
XR_242582.2:n.1380+98C>G
XM_005251864.4:c.1483+98C>G	XP_005251921.1:n.1483+98C>G
XM_011518439.2:c.738C>G	XP_011516741.1:p.Ile246Met
XM_017014565.2:c.1333+98C>G	XP_016870054.1:n.1333+98C>G
XM_017014566.1:c.738C>G	XP_016870055.1:p.Ile246Met
XR_242581.4:n.1476C>G
XR_242582.4:n.1378+98C>G
NM_004957.6:c.1581C>G MANE Select	NP_004948.4:p.Ile527Met