Canonical Allele Identifier: CA5252507

Gene: FPGS

Linked Data

• dbSNP Id: rs769572236
• ExAC: 9:130575630 C / G
• gnomAD v2: 9-130575630-C-G
• gnomAD v3: 9-127813351-C-G
• gnomAD v4: 9-127813351-C-G
• MyVariant Identifiers: chr9:g.130575630C>G (hg19) ; chr9:g.127813351C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1511C>G MANE Select	ENSP00000362344.2:p.Pro504Arg
ENST00000373225.7:c.1361C>G	ENSP00000362322.3:p.Pro454Arg
ENST00000373228.5:c.*168C>G	ENSP00000362325.1:n.*168C>G
ENST00000373247.6:c.1511C>G	ENSP00000362344.2:p.Pro504Arg
ENST00000393706.6:c.1433C>G	ENSP00000377309.2:p.Pro478Arg
ENST00000460181.5:n.1499C>G
ENST00000467826.5:n.709+28C>G
ENST00000475270.1:n.337C>G
ENST00000630236.2:c.*235C>G	ENSP00000486766.1:n.*235C>G
NM_001018078.2:c.1361C>G	NP_001018088.1:p.Pro454Arg
NM_001288803.1:c.1433C>G	NP_001275732.1:p.Pro478Arg
NM_004957.5:c.1511C>G	NP_004948.4:p.Pro504Arg
NR_110170.1:n.1559C>G
XM_005251864.2:c.1483+28C>G	XP_005251921.1:n.1483+28C>G
XM_011518437.1:c.1361C>G	XP_011516739.1:p.Pro454Arg
XM_011518438.1:c.1361C>G	XP_011516740.1:p.Pro454Arg
XM_011518439.1:c.668C>G	XP_011516741.1:p.Pro223Arg
XR_242581.2:n.1408C>G
XR_242582.2:n.1380+28C>G
XM_005251864.4:c.1483+28C>G	XP_005251921.1:n.1483+28C>G
XM_011518439.2:c.668C>G	XP_011516741.1:p.Pro223Arg
XM_017014565.2:c.1333+28C>G	XP_016870054.1:n.1333+28C>G
XM_017014566.1:c.668C>G	XP_016870055.1:p.Pro223Arg
XR_242581.4:n.1406C>G
XR_242582.4:n.1378+28C>G
NM_004957.6:c.1511C>G MANE Select	NP_004948.4:p.Pro504Arg