Canonical Allele Identifier: CA374965316

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575668T>C (hg19) ; chr9:g.127813389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813389T>C , CM000671.2:g.127813389T>C	GRCh38
NC_000009.11:g.130575668T>C , CM000671.1:g.130575668T>C	GRCh37
NC_000009.10:g.129615489T>C	NCBI36
NG_009551.1:g.46380A>G , LRG_589:g.46380A>G
NG_023245.1:g.15515T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1549T>C MANE Select	ENSP00000362344.2:p.Phe517Leu
ENST00000373225.7:c.1399T>C	ENSP00000362322.3:p.Phe467Leu
ENST00000373228.5:c.*206T>C	ENSP00000362325.1:n.*206T>C
ENST00000373247.6:c.1549T>C	ENSP00000362344.2:p.Phe517Leu
ENST00000393706.6:c.1471T>C	ENSP00000377309.2:p.Phe491Leu
ENST00000460181.5:n.1537T>C
ENST00000467826.5:n.709+66T>C
ENST00000475270.1:n.375T>C
ENST00000630236.2:c.*273T>C	ENSP00000486766.1:n.*273T>C
NM_001018078.2:c.1399T>C	NP_001018088.1:p.Phe467Leu
NM_001288803.1:c.1471T>C	NP_001275732.1:p.Phe491Leu
NM_004957.5:c.1549T>C	NP_004948.4:p.Phe517Leu
NR_110170.1:n.1597T>C
XM_005251864.2:c.1483+66T>C	XP_005251921.1:n.1483+66T>C
XM_011518437.1:c.1399T>C	XP_011516739.1:p.Phe467Leu
XM_011518438.1:c.1399T>C	XP_011516740.1:p.Phe467Leu
XM_011518439.1:c.706T>C	XP_011516741.1:p.Phe236Leu
XR_242581.2:n.1446T>C
XR_242582.2:n.1380+66T>C
XM_005251864.4:c.1483+66T>C	XP_005251921.1:n.1483+66T>C
XM_011518439.2:c.706T>C	XP_011516741.1:p.Phe236Leu
XM_017014565.2:c.1333+66T>C	XP_016870054.1:n.1333+66T>C
XM_017014566.1:c.706T>C	XP_016870055.1:p.Phe236Leu
XR_242581.4:n.1444T>C
XR_242582.4:n.1378+66T>C
NM_004957.6:c.1549T>C MANE Select	NP_004948.4:p.Phe517Leu