Canonical Allele Identifier: CA467474192

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575790C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813511C>G , CM000671.2:g.127813511C>G	GRCh38
NC_000009.11:g.130575790C>G , CM000671.1:g.130575790C>G	GRCh37
NC_000009.10:g.129615611C>G	NCBI36
NG_009551.1:g.46258G>C , LRG_589:g.46258G>C
NG_023245.1:g.15637C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1671C>G MANE Select	ENSP00000362344.2:p.Leu557=
ENST00000373225.7:c.1521C>G	ENSP00000362322.3:p.Leu507=
ENST00000373247.6:c.1671C>G	ENSP00000362344.2:p.Leu557=
ENST00000393706.6:c.1593C>G	ENSP00000377309.2:p.Leu531=
ENST00000460181.5:n.1659C>G
ENST00000467826.5:n.709+188C>G
ENST00000475270.1:n.497C>G
ENST00000630236.2:c.*395C>G	ENSP00000486766.1:n.*395C>G
NM_001018078.2:c.1521C>G	NP_001018088.1:p.Leu507=
NM_001288803.1:c.1593C>G	NP_001275732.1:p.Leu531=
NM_004957.5:c.1671C>G	NP_004948.4:p.Leu557=
NR_110170.1:n.1719C>G
XM_005251864.2:c.1483+188C>G	XP_005251921.1:n.1483+188C>G
XM_011518437.1:c.1521C>G	XP_011516739.1:p.Leu507=
XM_011518438.1:c.1521C>G	XP_011516740.1:p.Leu507=
XM_011518439.1:c.828C>G	XP_011516741.1:p.Leu276=
XR_242581.2:n.1568C>G
XR_242582.2:n.1380+188C>G
XM_005251864.4:c.1483+188C>G	XP_005251921.1:n.1483+188C>G
XM_011518439.2:c.828C>G	XP_011516741.1:p.Leu276=
XM_017014565.2:c.1333+188C>G	XP_016870054.1:n.1333+188C>G
XM_017014566.1:c.828C>G	XP_016870055.1:p.Leu276=
XR_242581.4:n.1566C>G
XR_242582.4:n.1378+188C>G
NM_004957.6:c.1671C>G MANE Select	NP_004948.4:p.Leu557=