Canonical Allele Identifier: CA5252546

Gene: FPGS

Linked Data

• dbSNP Id: rs754688500
• ExAC: 9:130575879 A / G
• gnomAD v2: 9-130575879-A-G
• gnomAD v3: 9-127813600-A-G
• gnomAD v4: 9-127813600-A-G
• MyVariant Identifiers: chr9:g.130575879A>G (hg19) ; chr9:g.127813600A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813600A>G , CM000671.2:g.127813600A>G	GRCh38
NC_000009.11:g.130575879A>G , CM000671.1:g.130575879A>G	GRCh37
NC_000009.10:g.129615700A>G	NCBI36
NG_009551.1:g.46169T>C , LRG_589:g.46169T>C
NG_023245.1:g.15726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1760A>G MANE Select	ENSP00000362344.2:p.Gln587Arg
ENST00000373225.7:c.1610A>G	ENSP00000362322.3:p.Gln537Arg
ENST00000373247.6:c.1760A>G	ENSP00000362344.2:p.Gln587Arg
ENST00000393706.6:c.1682A>G	ENSP00000377309.2:p.Gln561Arg
ENST00000460181.5:n.1748A>G
ENST00000467826.5:n.709+277A>G
ENST00000630236.2:c.*484A>G	ENSP00000486766.1:n.*484A>G
NM_001018078.2:c.1610A>G	NP_001018088.1:p.Gln537Arg
NM_001288803.1:c.1682A>G	NP_001275732.1:p.Gln561Arg
NM_004957.5:c.1760A>G	NP_004948.4:p.Gln587Arg
NR_110170.1:n.1808A>G
XM_005251864.2:c.1483+277A>G	XP_005251921.1:n.1483+277A>G
XM_011518437.1:c.1610A>G	XP_011516739.1:p.Gln537Arg
XM_011518438.1:c.1610A>G	XP_011516740.1:p.Gln537Arg
XM_011518439.1:c.917A>G	XP_011516741.1:p.Gln306Arg
XR_242581.2:n.1657A>G
XR_242582.2:n.1380+277A>G
XM_005251864.4:c.1483+277A>G	XP_005251921.1:n.1483+277A>G
XM_011518439.2:c.917A>G	XP_011516741.1:p.Gln306Arg
XM_017014565.2:c.1333+277A>G	XP_016870054.1:n.1333+277A>G
XM_017014566.1:c.917A>G	XP_016870055.1:p.Gln306Arg
XR_242581.4:n.1655A>G
XR_242582.4:n.1378+277A>G
NM_004957.6:c.1760A>G MANE Select	NP_004948.4:p.Gln587Arg