Canonical Allele Identifier: CA374967319

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575854A>C (hg19) ; chr9:g.127813575A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813575A>C , CM000671.2:g.127813575A>C	GRCh38
NC_000009.11:g.130575854A>C , CM000671.1:g.130575854A>C	GRCh37
NC_000009.10:g.129615675A>C	NCBI36
NG_009551.1:g.46194T>G , LRG_589:g.46194T>G
NG_023245.1:g.15701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1735A>C MANE Select	ENSP00000362344.2:p.Lys579Gln
ENST00000373225.7:c.1585A>C	ENSP00000362322.3:p.Lys529Gln
ENST00000373247.6:c.1735A>C	ENSP00000362344.2:p.Lys579Gln
ENST00000393706.6:c.1657A>C	ENSP00000377309.2:p.Lys553Gln
ENST00000460181.5:n.1723A>C
ENST00000467826.5:n.709+252A>C
ENST00000630236.2:c.*459A>C	ENSP00000486766.1:n.*459A>C
NM_001018078.2:c.1585A>C	NP_001018088.1:p.Lys529Gln
NM_001288803.1:c.1657A>C	NP_001275732.1:p.Lys553Gln
NM_004957.5:c.1735A>C	NP_004948.4:p.Lys579Gln
NR_110170.1:n.1783A>C
XM_005251864.2:c.1483+252A>C	XP_005251921.1:n.1483+252A>C
XM_011518437.1:c.1585A>C	XP_011516739.1:p.Lys529Gln
XM_011518438.1:c.1585A>C	XP_011516740.1:p.Lys529Gln
XM_011518439.1:c.892A>C	XP_011516741.1:p.Lys298Gln
XR_242581.2:n.1632A>C
XR_242582.2:n.1380+252A>C
XM_005251864.4:c.1483+252A>C	XP_005251921.1:n.1483+252A>C
XM_011518439.2:c.892A>C	XP_011516741.1:p.Lys298Gln
XM_017014565.2:c.1333+252A>C	XP_016870054.1:n.1333+252A>C
XM_017014566.1:c.892A>C	XP_016870055.1:p.Lys298Gln
XR_242581.4:n.1630A>C
XR_242582.4:n.1378+252A>C
NM_004957.6:c.1735A>C MANE Select	NP_004948.4:p.Lys579Gln