Canonical Allele Identifier: CA5252520

Gene: FPGS

Linked Data

• dbSNP Id: rs369079697
• ExAC: 9:130575672 G / C
• gnomAD v2: 9-130575672-G-C
• gnomAD v4: 9-127813393-G-C
• MyVariant Identifiers: chr9:g.130575672G>C (hg19) ; chr9:g.127813393G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813393G>C , CM000671.2:g.127813393G>C	GRCh38
NC_000009.11:g.130575672G>C , CM000671.1:g.130575672G>C	GRCh37
NC_000009.10:g.129615493G>C	NCBI36
NG_009551.1:g.46376C>G , LRG_589:g.46376C>G
NG_023245.1:g.15519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1553G>C MANE Select	ENSP00000362344.2:p.Ser518Thr
ENST00000373225.7:c.1403G>C	ENSP00000362322.3:p.Ser468Thr
ENST00000373228.5:c.*210G>C	ENSP00000362325.1:n.*210G>C
ENST00000373247.6:c.1553G>C	ENSP00000362344.2:p.Ser518Thr
ENST00000393706.6:c.1475G>C	ENSP00000377309.2:p.Ser492Thr
ENST00000460181.5:n.1541G>C
ENST00000467826.5:n.709+70G>C
ENST00000475270.1:n.379G>C
ENST00000630236.2:c.*277G>C	ENSP00000486766.1:n.*277G>C
NM_001018078.2:c.1403G>C	NP_001018088.1:p.Ser468Thr
NM_001288803.1:c.1475G>C	NP_001275732.1:p.Ser492Thr
NM_004957.5:c.1553G>C	NP_004948.4:p.Ser518Thr
NR_110170.1:n.1601G>C
XM_005251864.2:c.1483+70G>C	XP_005251921.1:n.1483+70G>C
XM_011518437.1:c.1403G>C	XP_011516739.1:p.Ser468Thr
XM_011518438.1:c.1403G>C	XP_011516740.1:p.Ser468Thr
XM_011518439.1:c.710G>C	XP_011516741.1:p.Ser237Thr
XR_242581.2:n.1450G>C
XR_242582.2:n.1380+70G>C
XM_005251864.4:c.1483+70G>C	XP_005251921.1:n.1483+70G>C
XM_011518439.2:c.710G>C	XP_011516741.1:p.Ser237Thr
XM_017014565.2:c.1333+70G>C	XP_016870054.1:n.1333+70G>C
XM_017014566.1:c.710G>C	XP_016870055.1:p.Ser237Thr
XR_242581.4:n.1448G>C
XR_242582.4:n.1378+70G>C
NM_004957.6:c.1553G>C MANE Select	NP_004948.4:p.Ser518Thr