Canonical Allele Identifier: CA5252535

Gene: FPGS

Linked Data

• dbSNP Id: rs776664902
• ExAC: 9:130575812 G / A
• gnomAD v2: 9-130575812-G-A
• gnomAD v4: 9-127813533-G-A
• MyVariant Identifiers: chr9:g.130575812G>A (hg19) ; chr9:g.127813533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813533G>A , CM000671.2:g.127813533G>A	GRCh38
NC_000009.11:g.130575812G>A , CM000671.1:g.130575812G>A	GRCh37
NC_000009.10:g.129615633G>A	NCBI36
NG_009551.1:g.46236C>T , LRG_589:g.46236C>T
NG_023245.1:g.15659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1693G>A MANE Select	ENSP00000362344.2:p.Val565Met
ENST00000373225.7:c.1543G>A	ENSP00000362322.3:p.Val515Met
ENST00000373247.6:c.1693G>A	ENSP00000362344.2:p.Val565Met
ENST00000393706.6:c.1615G>A	ENSP00000377309.2:p.Val539Met
ENST00000460181.5:n.1681G>A
ENST00000467826.5:n.709+210G>A
ENST00000475270.1:n.519G>A
ENST00000630236.2:c.*417G>A	ENSP00000486766.1:n.*417G>A
NM_001018078.2:c.1543G>A	NP_001018088.1:p.Val515Met
NM_001288803.1:c.1615G>A	NP_001275732.1:p.Val539Met
NM_004957.5:c.1693G>A	NP_004948.4:p.Val565Met
NR_110170.1:n.1741G>A
XM_005251864.2:c.1483+210G>A	XP_005251921.1:n.1483+210G>A
XM_011518437.1:c.1543G>A	XP_011516739.1:p.Val515Met
XM_011518438.1:c.1543G>A	XP_011516740.1:p.Val515Met
XM_011518439.1:c.850G>A	XP_011516741.1:p.Val284Met
XR_242581.2:n.1590G>A
XR_242582.2:n.1380+210G>A
XM_005251864.4:c.1483+210G>A	XP_005251921.1:n.1483+210G>A
XM_011518439.2:c.850G>A	XP_011516741.1:p.Val284Met
XM_017014565.2:c.1333+210G>A	XP_016870054.1:n.1333+210G>A
XM_017014566.1:c.850G>A	XP_016870055.1:p.Val284Met
XR_242581.4:n.1588G>A
XR_242582.4:n.1378+210G>A
NM_004957.6:c.1693G>A MANE Select	NP_004948.4:p.Val565Met