Canonical Allele Identifier: CA374966959

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813542-A-G
• MyVariant Identifiers: chr9:g.130575821A>G (hg19) ; chr9:g.127813542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813542A>G , CM000671.2:g.127813542A>G	GRCh38
NC_000009.11:g.130575821A>G , CM000671.1:g.130575821A>G	GRCh37
NC_000009.10:g.129615642A>G	NCBI36
NG_009551.1:g.46227T>C , LRG_589:g.46227T>C
NG_023245.1:g.15668A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1702A>G MANE Select	ENSP00000362344.2:p.Thr568Ala
ENST00000373225.7:c.1552A>G	ENSP00000362322.3:p.Thr518Ala
ENST00000373247.6:c.1702A>G	ENSP00000362344.2:p.Thr568Ala
ENST00000393706.6:c.1624A>G	ENSP00000377309.2:p.Thr542Ala
ENST00000460181.5:n.1690A>G
ENST00000467826.5:n.709+219A>G
ENST00000475270.1:n.528A>G
ENST00000630236.2:c.*426A>G	ENSP00000486766.1:n.*426A>G
NM_001018078.2:c.1552A>G	NP_001018088.1:p.Thr518Ala
NM_001288803.1:c.1624A>G	NP_001275732.1:p.Thr542Ala
NM_004957.5:c.1702A>G	NP_004948.4:p.Thr568Ala
NR_110170.1:n.1750A>G
XM_005251864.2:c.1483+219A>G	XP_005251921.1:n.1483+219A>G
XM_011518437.1:c.1552A>G	XP_011516739.1:p.Thr518Ala
XM_011518438.1:c.1552A>G	XP_011516740.1:p.Thr518Ala
XM_011518439.1:c.859A>G	XP_011516741.1:p.Thr287Ala
XR_242581.2:n.1599A>G
XR_242582.2:n.1380+219A>G
XM_005251864.4:c.1483+219A>G	XP_005251921.1:n.1483+219A>G
XM_011518439.2:c.859A>G	XP_011516741.1:p.Thr287Ala
XM_017014565.2:c.1333+219A>G	XP_016870054.1:n.1333+219A>G
XM_017014566.1:c.859A>G	XP_016870055.1:p.Thr287Ala
XR_242581.4:n.1597A>G
XR_242582.4:n.1378+219A>G
NM_004957.6:c.1702A>G MANE Select	NP_004948.4:p.Thr568Ala