Canonical Allele Identifier: CA374966088

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575745G>C (hg19) ; chr9:g.127813466G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813466G>C , CM000671.2:g.127813466G>C	GRCh38
NC_000009.11:g.130575745G>C , CM000671.1:g.130575745G>C	GRCh37
NC_000009.10:g.129615566G>C	NCBI36
NG_009551.1:g.46303C>G , LRG_589:g.46303C>G
NG_023245.1:g.15592G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1626G>C MANE Select	ENSP00000362344.2:p.Lys542Asn
ENST00000373225.7:c.1476G>C	ENSP00000362322.3:p.Lys492Asn
ENST00000373247.6:c.1626G>C	ENSP00000362344.2:p.Lys542Asn
ENST00000393706.6:c.1548G>C	ENSP00000377309.2:p.Lys516Asn
ENST00000460181.5:n.1614G>C
ENST00000467826.5:n.709+143G>C
ENST00000475270.1:n.452G>C
ENST00000630236.2:c.*350G>C	ENSP00000486766.1:n.*350G>C
NM_001018078.2:c.1476G>C	NP_001018088.1:p.Lys492Asn
NM_001288803.1:c.1548G>C	NP_001275732.1:p.Lys516Asn
NM_004957.5:c.1626G>C	NP_004948.4:p.Lys542Asn
NR_110170.1:n.1674G>C
XM_005251864.2:c.1483+143G>C	XP_005251921.1:n.1483+143G>C
XM_011518437.1:c.1476G>C	XP_011516739.1:p.Lys492Asn
XM_011518438.1:c.1476G>C	XP_011516740.1:p.Lys492Asn
XM_011518439.1:c.783G>C	XP_011516741.1:p.Lys261Asn
XR_242581.2:n.1523G>C
XR_242582.2:n.1380+143G>C
XM_005251864.4:c.1483+143G>C	XP_005251921.1:n.1483+143G>C
XM_011518439.2:c.783G>C	XP_011516741.1:p.Lys261Asn
XM_017014565.2:c.1333+143G>C	XP_016870054.1:n.1333+143G>C
XM_017014566.1:c.783G>C	XP_016870055.1:p.Lys261Asn
XR_242581.4:n.1521G>C
XR_242582.4:n.1378+143G>C
NM_004957.6:c.1626G>C MANE Select	NP_004948.4:p.Lys542Asn