Canonical Allele Identifier: CA467474168

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575757C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813478C>G , CM000671.2:g.127813478C>G	GRCh38
NC_000009.11:g.130575757C>G , CM000671.1:g.130575757C>G	GRCh37
NC_000009.10:g.129615578C>G	NCBI36
NG_009551.1:g.46291G>C , LRG_589:g.46291G>C
NG_023245.1:g.15604C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1638C>G MANE Select	ENSP00000362344.2:p.Thr546=
ENST00000373225.7:c.1488C>G	ENSP00000362322.3:p.Thr496=
ENST00000373247.6:c.1638C>G	ENSP00000362344.2:p.Thr546=
ENST00000393706.6:c.1560C>G	ENSP00000377309.2:p.Thr520=
ENST00000460181.5:n.1626C>G
ENST00000467826.5:n.709+155C>G
ENST00000475270.1:n.464C>G
ENST00000630236.2:c.*362C>G	ENSP00000486766.1:n.*362C>G
NM_001018078.2:c.1488C>G	NP_001018088.1:p.Thr496=
NM_001288803.1:c.1560C>G	NP_001275732.1:p.Thr520=
NM_004957.5:c.1638C>G	NP_004948.4:p.Thr546=
NR_110170.1:n.1686C>G
XM_005251864.2:c.1483+155C>G	XP_005251921.1:n.1483+155C>G
XM_011518437.1:c.1488C>G	XP_011516739.1:p.Thr496=
XM_011518438.1:c.1488C>G	XP_011516740.1:p.Thr496=
XM_011518439.1:c.795C>G	XP_011516741.1:p.Thr265=
XR_242581.2:n.1535C>G
XR_242582.2:n.1380+155C>G
XM_005251864.4:c.1483+155C>G	XP_005251921.1:n.1483+155C>G
XM_011518439.2:c.795C>G	XP_011516741.1:p.Thr265=
XM_017014565.2:c.1333+155C>G	XP_016870054.1:n.1333+155C>G
XM_017014566.1:c.795C>G	XP_016870055.1:p.Thr265=
XR_242581.4:n.1533C>G
XR_242582.4:n.1378+155C>G
NM_004957.6:c.1638C>G MANE Select	NP_004948.4:p.Thr546=