Canonical Allele Identifier: CA374965544

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575693A>T (hg19) ; chr9:g.127813414A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813414A>T , CM000671.2:g.127813414A>T	GRCh38
NC_000009.11:g.130575693A>T , CM000671.1:g.130575693A>T	GRCh37
NC_000009.10:g.129615514A>T	NCBI36
NG_009551.1:g.46355T>A , LRG_589:g.46355T>A
NG_023245.1:g.15540A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1574A>T MANE Select	ENSP00000362344.2:p.Gln525Leu
ENST00000373225.7:c.1424A>T	ENSP00000362322.3:p.Gln475Leu
ENST00000373228.5:c.*231A>T	ENSP00000362325.1:n.*231A>T
ENST00000373247.6:c.1574A>T	ENSP00000362344.2:p.Gln525Leu
ENST00000393706.6:c.1496A>T	ENSP00000377309.2:p.Gln499Leu
ENST00000460181.5:n.1562A>T
ENST00000467826.5:n.709+91A>T
ENST00000475270.1:n.400A>T
ENST00000630236.2:c.*298A>T	ENSP00000486766.1:n.*298A>T
NM_001018078.2:c.1424A>T	NP_001018088.1:p.Gln475Leu
NM_001288803.1:c.1496A>T	NP_001275732.1:p.Gln499Leu
NM_004957.5:c.1574A>T	NP_004948.4:p.Gln525Leu
NR_110170.1:n.1622A>T
XM_005251864.2:c.1483+91A>T	XP_005251921.1:n.1483+91A>T
XM_011518437.1:c.1424A>T	XP_011516739.1:p.Gln475Leu
XM_011518438.1:c.1424A>T	XP_011516740.1:p.Gln475Leu
XM_011518439.1:c.731A>T	XP_011516741.1:p.Gln244Leu
XR_242581.2:n.1471A>T
XR_242582.2:n.1380+91A>T
XM_005251864.4:c.1483+91A>T	XP_005251921.1:n.1483+91A>T
XM_011518439.2:c.731A>T	XP_011516741.1:p.Gln244Leu
XM_017014565.2:c.1333+91A>T	XP_016870054.1:n.1333+91A>T
XM_017014566.1:c.731A>T	XP_016870055.1:p.Gln244Leu
XR_242581.4:n.1469A>T
XR_242582.4:n.1378+91A>T
NM_004957.6:c.1574A>T MANE Select	NP_004948.4:p.Gln525Leu