Canonical Allele Identifier: CA374964847

Gene: FPGS

Linked Data

• dbSNP Id: rs1226717291
• gnomAD v4: 9-127813321-C-G
• MyVariant Identifiers: chr9:g.130575600C>G (hg19) ; chr9:g.127813321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813321C>G , CM000671.2:g.127813321C>G	GRCh38
NC_000009.11:g.130575600C>G , CM000671.1:g.130575600C>G	GRCh37
NC_000009.10:g.129615421C>G	NCBI36
NG_009551.1:g.46448G>C , LRG_589:g.46448G>C
NG_023245.1:g.15447C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1481C>G MANE Select	ENSP00000362344.2:p.Pro494Arg
ENST00000373225.7:c.1331C>G	ENSP00000362322.3:p.Pro444Arg
ENST00000373228.5:c.*138C>G	ENSP00000362325.1:n.*138C>G
ENST00000373247.6:c.1481C>G	ENSP00000362344.2:p.Pro494Arg
ENST00000393706.6:c.1403C>G	ENSP00000377309.2:p.Pro468Arg
ENST00000460181.5:n.1469C>G
ENST00000467826.5:n.707C>G
ENST00000475270.1:n.307C>G
ENST00000630236.2:c.*205C>G	ENSP00000486766.1:n.*205C>G
NM_001018078.2:c.1331C>G	NP_001018088.1:p.Pro444Arg
NM_001288803.1:c.1403C>G	NP_001275732.1:p.Pro468Arg
NM_004957.5:c.1481C>G	NP_004948.4:p.Pro494Arg
NR_110170.1:n.1529C>G
XM_005251864.2:c.1481C>G	XP_005251921.1:p.Pro494Arg
XM_011518437.1:c.1331C>G	XP_011516739.1:p.Pro444Arg
XM_011518438.1:c.1331C>G	XP_011516740.1:p.Pro444Arg
XM_011518439.1:c.638C>G	XP_011516741.1:p.Pro213Arg
XR_242581.2:n.1378C>G
XR_242582.2:n.1378C>G
XM_005251864.4:c.1481C>G	XP_005251921.1:p.Pro494Arg
XM_011518439.2:c.638C>G	XP_011516741.1:p.Pro213Arg
XM_017014565.2:c.1331C>G	XP_016870054.1:p.Pro444Arg
XM_017014566.1:c.638C>G	XP_016870055.1:p.Pro213Arg
XR_242581.4:n.1376C>G
XR_242582.4:n.1376C>G
NM_004957.6:c.1481C>G MANE Select	NP_004948.4:p.Pro494Arg