Canonical Allele Identifier: CA374964900

Gene: FPGS

Linked Data

• dbSNP Id: rs750428981
• gnomAD v4: 9-127813332-G-C
• MyVariant Identifiers: chr9:g.130575611G>C (hg19) ; chr9:g.127813332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813332G>C , CM000671.2:g.127813332G>C	GRCh38
NC_000009.11:g.130575611G>C , CM000671.1:g.130575611G>C	GRCh37
NC_000009.10:g.129615432G>C	NCBI36
NG_009551.1:g.46437C>G , LRG_589:g.46437C>G
NG_023245.1:g.15458G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1492G>C MANE Select	ENSP00000362344.2:p.Ala498Pro
ENST00000373225.7:c.1342G>C	ENSP00000362322.3:p.Ala448Pro
ENST00000373228.5:c.*149G>C	ENSP00000362325.1:n.*149G>C
ENST00000373247.6:c.1492G>C	ENSP00000362344.2:p.Ala498Pro
ENST00000393706.6:c.1414G>C	ENSP00000377309.2:p.Ala472Pro
ENST00000460181.5:n.1480G>C
ENST00000467826.5:n.709+9G>C
ENST00000475270.1:n.318G>C
ENST00000630236.2:c.*216G>C	ENSP00000486766.1:n.*216G>C
NM_001018078.2:c.1342G>C	NP_001018088.1:p.Ala448Pro
NM_001288803.1:c.1414G>C	NP_001275732.1:p.Ala472Pro
NM_004957.5:c.1492G>C	NP_004948.4:p.Ala498Pro
NR_110170.1:n.1540G>C
XM_005251864.2:c.1483+9G>C	XP_005251921.1:n.1483+9G>C
XM_011518437.1:c.1342G>C	XP_011516739.1:p.Ala448Pro
XM_011518438.1:c.1342G>C	XP_011516740.1:p.Ala448Pro
XM_011518439.1:c.649G>C	XP_011516741.1:p.Ala217Pro
XR_242581.2:n.1389G>C
XR_242582.2:n.1380+9G>C
XM_005251864.4:c.1483+9G>C	XP_005251921.1:n.1483+9G>C
XM_011518439.2:c.649G>C	XP_011516741.1:p.Ala217Pro
XM_017014565.2:c.1333+9G>C	XP_016870054.1:n.1333+9G>C
XM_017014566.1:c.649G>C	XP_016870055.1:p.Ala217Pro
XR_242581.4:n.1387G>C
XR_242582.4:n.1378+9G>C
NM_004957.6:c.1492G>C MANE Select	NP_004948.4:p.Ala498Pro