Canonical Allele Identifier: CA590600841

Gene: FPGS

Linked Data

• dbSNP Id: rs1356000170
• gnomAD v2: 9-130576130-C-T
• gnomAD v3: 9-127813851-C-T
• gnomAD v4: 9-127813851-C-T
• MyVariant Identifiers: chr9:g.130576130C>T (hg19) ; chr9:g.127813851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813851C>T , CM000671.2:g.127813851C>T	GRCh38
NC_000009.11:g.130576130C>T , CM000671.1:g.130576130C>T	GRCh37
NC_000009.10:g.129615951C>T	NCBI36
NG_009551.1:g.45918G>A , LRG_589:g.45918G>A
NG_023245.1:g.15977C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373247.7:c.*247C>T MANE Select	ENSP00000362344.2:n.*247C>T
ENST00000373225.7:c.*247C>T	ENSP00000362322.3:n.*247C>T
ENST00000373247.6:c.*247C>T	ENSP00000362344.2:n.*247C>T
ENST00000393706.6:c.*247C>T	ENSP00000377309.2:n.*247C>T
ENST00000460181.5:n.1999C>T
ENST00000467826.5:n.710-357C>T
ENST00000630236.2:c.*735C>T	ENSP00000486766.1:n.*735C>T
NM_001018078.2:c.*247C>T	NP_001018088.1:n.*247C>T
NM_001288803.1:c.*247C>T	NP_001275732.1:n.*247C>T
NM_004957.5:c.*247C>T	NP_004948.4:n.*247C>T
NR_110170.1:n.2059C>T
XM_005251864.2:c.1484-357C>T	XP_005251921.1:n.1484-357C>T
XM_011518437.1:c.*247C>T	XP_011516739.1:n.*247C>T
XM_011518438.1:c.*247C>T	XP_011516740.1:n.*247C>T
XM_011518439.1:c.*247C>T	XP_011516741.1:n.*247C>T
XR_242581.2:n.1908C>T
XR_242582.2:n.1381-357C>T
XM_005251864.4:c.1484-357C>T	XP_005251921.1:n.1484-357C>T
XM_011518439.2:c.*247C>T	XP_011516741.1:n.*247C>T
XM_017014565.2:c.1334-357C>T	XP_016870054.1:n.1334-357C>T
XM_017014566.1:c.*247C>T	XP_016870055.1:n.*247C>T
XR_242581.4:n.1906C>T
XR_242582.4:n.1379-357C>T
NM_004957.6:c.*247C>T MANE Select	NP_004948.4:n.*247C>T