Canonical Allele Identifier: CA374966138

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813470-C-T
• MyVariant Identifiers: chr9:g.130575749C>T (hg19) ; chr9:g.127813470C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813470C>T , CM000671.2:g.127813470C>T	GRCh38
NC_000009.11:g.130575749C>T , CM000671.1:g.130575749C>T	GRCh37
NC_000009.10:g.129615570C>T	NCBI36
NG_009551.1:g.46299G>A , LRG_589:g.46299G>A
NG_023245.1:g.15596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1630C>T MANE Select	ENSP00000362344.2:p.Leu544Phe
ENST00000373225.7:c.1480C>T	ENSP00000362322.3:p.Leu494Phe
ENST00000373247.6:c.1630C>T	ENSP00000362344.2:p.Leu544Phe
ENST00000393706.6:c.1552C>T	ENSP00000377309.2:p.Leu518Phe
ENST00000460181.5:n.1618C>T
ENST00000467826.5:n.709+147C>T
ENST00000475270.1:n.456C>T
ENST00000630236.2:c.*354C>T	ENSP00000486766.1:n.*354C>T
NM_001018078.2:c.1480C>T	NP_001018088.1:p.Leu494Phe
NM_001288803.1:c.1552C>T	NP_001275732.1:p.Leu518Phe
NM_004957.5:c.1630C>T	NP_004948.4:p.Leu544Phe
NR_110170.1:n.1678C>T
XM_005251864.2:c.1483+147C>T	XP_005251921.1:n.1483+147C>T
XM_011518437.1:c.1480C>T	XP_011516739.1:p.Leu494Phe
XM_011518438.1:c.1480C>T	XP_011516740.1:p.Leu494Phe
XM_011518439.1:c.787C>T	XP_011516741.1:p.Leu263Phe
XR_242581.2:n.1527C>T
XR_242582.2:n.1380+147C>T
XM_005251864.4:c.1483+147C>T	XP_005251921.1:n.1483+147C>T
XM_011518439.2:c.787C>T	XP_011516741.1:p.Leu263Phe
XM_017014565.2:c.1333+147C>T	XP_016870054.1:n.1333+147C>T
XM_017014566.1:c.787C>T	XP_016870055.1:p.Leu263Phe
XR_242581.4:n.1525C>T
XR_242582.4:n.1378+147C>T
NM_004957.6:c.1630C>T MANE Select	NP_004948.4:p.Leu544Phe