Canonical Allele Identifier: CA467474224

Gene: FPGS

Linked Data

• dbSNP Id: rs1830181238
• gnomAD v3: 9-127813547-C-T
• gnomAD v4: 9-127813547-C-T
• MyVariant Identifiers: chr9:g.130575826C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813547C>T , CM000671.2:g.127813547C>T	GRCh38
NC_000009.11:g.130575826C>T , CM000671.1:g.130575826C>T	GRCh37
NC_000009.10:g.129615647C>T	NCBI36
NG_009551.1:g.46222G>A , LRG_589:g.46222G>A
NG_023245.1:g.15673C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1707C>T MANE Select	ENSP00000362344.2:p.Gly569=
ENST00000373225.7:c.1557C>T	ENSP00000362322.3:p.Gly519=
ENST00000373247.6:c.1707C>T	ENSP00000362344.2:p.Gly569=
ENST00000393706.6:c.1629C>T	ENSP00000377309.2:p.Gly543=
ENST00000460181.5:n.1695C>T
ENST00000467826.5:n.709+224C>T
ENST00000475270.1:n.533C>T
ENST00000630236.2:c.*431C>T	ENSP00000486766.1:n.*431C>T
NM_001018078.2:c.1557C>T	NP_001018088.1:p.Gly519=
NM_001288803.1:c.1629C>T	NP_001275732.1:p.Gly543=
NM_004957.5:c.1707C>T	NP_004948.4:p.Gly569=
NR_110170.1:n.1755C>T
XM_005251864.2:c.1483+224C>T	XP_005251921.1:n.1483+224C>T
XM_011518437.1:c.1557C>T	XP_011516739.1:p.Gly519=
XM_011518438.1:c.1557C>T	XP_011516740.1:p.Gly519=
XM_011518439.1:c.864C>T	XP_011516741.1:p.Gly288=
XR_242581.2:n.1604C>T
XR_242582.2:n.1380+224C>T
XM_005251864.4:c.1483+224C>T	XP_005251921.1:n.1483+224C>T
XM_011518439.2:c.864C>T	XP_011516741.1:p.Gly288=
XM_017014565.2:c.1333+224C>T	XP_016870054.1:n.1333+224C>T
XM_017014566.1:c.864C>T	XP_016870055.1:p.Gly288=
XR_242581.4:n.1602C>T
XR_242582.4:n.1378+224C>T
NM_004957.6:c.1707C>T MANE Select	NP_004948.4:p.Gly569=