Canonical Allele Identifier: CA5252545

Gene: FPGS

Linked Data

• dbSNP Id: rs184755219
• ExAC: 9:130575869 G / T
• gnomAD v2: 9-130575869-G-T
• gnomAD v3: 9-127813590-G-T
• gnomAD v4: 9-127813590-G-T
• COSMIC: COSM3326116
• MyVariant Identifiers: chr9:g.130575869G>T (hg19) ; chr9:g.127813590G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813590G>T , CM000671.2:g.127813590G>T	GRCh38
NC_000009.11:g.130575869G>T , CM000671.1:g.130575869G>T	GRCh37
NC_000009.10:g.129615690G>T	NCBI36
NG_009551.1:g.46179C>A , LRG_589:g.46179C>A
NG_023245.1:g.15716G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1750G>T MANE Select	ENSP00000362344.2:p.Ala584Ser
ENST00000373225.7:c.1600G>T	ENSP00000362322.3:p.Ala534Ser
ENST00000373247.6:c.1750G>T	ENSP00000362344.2:p.Ala584Ser
ENST00000393706.6:c.1672G>T	ENSP00000377309.2:p.Ala558Ser
ENST00000460181.5:n.1738G>T
ENST00000467826.5:n.709+267G>T
ENST00000630236.2:c.*474G>T	ENSP00000486766.1:n.*474G>T
NM_001018078.2:c.1600G>T	NP_001018088.1:p.Ala534Ser
NM_001288803.1:c.1672G>T	NP_001275732.1:p.Ala558Ser
NM_004957.5:c.1750G>T	NP_004948.4:p.Ala584Ser
NR_110170.1:n.1798G>T
XM_005251864.2:c.1483+267G>T	XP_005251921.1:n.1483+267G>T
XM_011518437.1:c.1600G>T	XP_011516739.1:p.Ala534Ser
XM_011518438.1:c.1600G>T	XP_011516740.1:p.Ala534Ser
XM_011518439.1:c.907G>T	XP_011516741.1:p.Ala303Ser
XR_242581.2:n.1647G>T
XR_242582.2:n.1380+267G>T
XM_005251864.4:c.1483+267G>T	XP_005251921.1:n.1483+267G>T
XM_011518439.2:c.907G>T	XP_011516741.1:p.Ala303Ser
XM_017014565.2:c.1333+267G>T	XP_016870054.1:n.1333+267G>T
XM_017014566.1:c.907G>T	XP_016870055.1:p.Ala303Ser
XR_242581.4:n.1645G>T
XR_242582.4:n.1378+267G>T
NM_004957.6:c.1750G>T MANE Select	NP_004948.4:p.Ala584Ser