Canonical Allele Identifier: CA5252517

Gene: FPGS

Linked Data

• dbSNP Id: rs766443523
• ExAC: 9:130575665 G / A
• gnomAD v2: 9-130575665-G-A
• gnomAD v3: 9-127813386-G-A
• gnomAD v4: 9-127813386-G-A
• MyVariant Identifiers: chr9:g.130575665G>A (hg19) ; chr9:g.127813386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813386G>A , CM000671.2:g.127813386G>A	GRCh38
NC_000009.11:g.130575665G>A , CM000671.1:g.130575665G>A	GRCh37
NC_000009.10:g.129615486G>A	NCBI36
NG_009551.1:g.46383C>T , LRG_589:g.46383C>T
NG_023245.1:g.15512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1546G>A MANE Select	ENSP00000362344.2:p.Val516Ile
ENST00000373225.7:c.1396G>A	ENSP00000362322.3:p.Val466Ile
ENST00000373228.5:c.*203G>A	ENSP00000362325.1:n.*203G>A
ENST00000373247.6:c.1546G>A	ENSP00000362344.2:p.Val516Ile
ENST00000393706.6:c.1468G>A	ENSP00000377309.2:p.Val490Ile
ENST00000460181.5:n.1534G>A
ENST00000467826.5:n.709+63G>A
ENST00000475270.1:n.372G>A
ENST00000630236.2:c.*270G>A	ENSP00000486766.1:n.*270G>A
NM_001018078.2:c.1396G>A	NP_001018088.1:p.Val466Ile
NM_001288803.1:c.1468G>A	NP_001275732.1:p.Val490Ile
NM_004957.5:c.1546G>A	NP_004948.4:p.Val516Ile
NR_110170.1:n.1594G>A
XM_005251864.2:c.1483+63G>A	XP_005251921.1:n.1483+63G>A
XM_011518437.1:c.1396G>A	XP_011516739.1:p.Val466Ile
XM_011518438.1:c.1396G>A	XP_011516740.1:p.Val466Ile
XM_011518439.1:c.703G>A	XP_011516741.1:p.Val235Ile
XR_242581.2:n.1443G>A
XR_242582.2:n.1380+63G>A
XM_005251864.4:c.1483+63G>A	XP_005251921.1:n.1483+63G>A
XM_011518439.2:c.703G>A	XP_011516741.1:p.Val235Ile
XM_017014565.2:c.1333+63G>A	XP_016870054.1:n.1333+63G>A
XM_017014566.1:c.703G>A	XP_016870055.1:p.Val235Ile
XR_242581.4:n.1441G>A
XR_242582.4:n.1378+63G>A
NM_004957.6:c.1546G>A MANE Select	NP_004948.4:p.Val516Ile