Canonical Allele Identifier: CA374964960

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575623C>G (hg19) ; chr9:g.127813344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813344C>G , CM000671.2:g.127813344C>G	GRCh38
NC_000009.11:g.130575623C>G , CM000671.1:g.130575623C>G	GRCh37
NC_000009.10:g.129615444C>G	NCBI36
NG_009551.1:g.46425G>C , LRG_589:g.46425G>C
NG_023245.1:g.15470C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1504C>G MANE Select	ENSP00000362344.2:p.Leu502Val
ENST00000373225.7:c.1354C>G	ENSP00000362322.3:p.Leu452Val
ENST00000373228.5:c.*161C>G	ENSP00000362325.1:n.*161C>G
ENST00000373247.6:c.1504C>G	ENSP00000362344.2:p.Leu502Val
ENST00000393706.6:c.1426C>G	ENSP00000377309.2:p.Leu476Val
ENST00000460181.5:n.1492C>G
ENST00000467826.5:n.709+21C>G
ENST00000475270.1:n.330C>G
ENST00000630236.2:c.*228C>G	ENSP00000486766.1:n.*228C>G
NM_001018078.2:c.1354C>G	NP_001018088.1:p.Leu452Val
NM_001288803.1:c.1426C>G	NP_001275732.1:p.Leu476Val
NM_004957.5:c.1504C>G	NP_004948.4:p.Leu502Val
NR_110170.1:n.1552C>G
XM_005251864.2:c.1483+21C>G	XP_005251921.1:n.1483+21C>G
XM_011518437.1:c.1354C>G	XP_011516739.1:p.Leu452Val
XM_011518438.1:c.1354C>G	XP_011516740.1:p.Leu452Val
XM_011518439.1:c.661C>G	XP_011516741.1:p.Leu221Val
XR_242581.2:n.1401C>G
XR_242582.2:n.1380+21C>G
XM_005251864.4:c.1483+21C>G	XP_005251921.1:n.1483+21C>G
XM_011518439.2:c.661C>G	XP_011516741.1:p.Leu221Val
XM_017014565.2:c.1333+21C>G	XP_016870054.1:n.1333+21C>G
XM_017014566.1:c.661C>G	XP_016870055.1:p.Leu221Val
XR_242581.4:n.1399C>G
XR_242582.4:n.1378+21C>G
NM_004957.6:c.1504C>G MANE Select	NP_004948.4:p.Leu502Val