Canonical Allele Identifier: CA374965503

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575689T>A (hg19) ; chr9:g.127813410T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813410T>A , CM000671.2:g.127813410T>A	GRCh38
NC_000009.11:g.130575689T>A , CM000671.1:g.130575689T>A	GRCh37
NC_000009.10:g.129615510T>A	NCBI36
NG_009551.1:g.46359A>T , LRG_589:g.46359A>T
NG_023245.1:g.15536T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1570T>A MANE Select	ENSP00000362344.2:p.Leu524Met
ENST00000373225.7:c.1420T>A	ENSP00000362322.3:p.Leu474Met
ENST00000373228.5:c.*227T>A	ENSP00000362325.1:n.*227T>A
ENST00000373247.6:c.1570T>A	ENSP00000362344.2:p.Leu524Met
ENST00000393706.6:c.1492T>A	ENSP00000377309.2:p.Leu498Met
ENST00000460181.5:n.1558T>A
ENST00000467826.5:n.709+87T>A
ENST00000475270.1:n.396T>A
ENST00000630236.2:c.*294T>A	ENSP00000486766.1:n.*294T>A
NM_001018078.2:c.1420T>A	NP_001018088.1:p.Leu474Met
NM_001288803.1:c.1492T>A	NP_001275732.1:p.Leu498Met
NM_004957.5:c.1570T>A	NP_004948.4:p.Leu524Met
NR_110170.1:n.1618T>A
XM_005251864.2:c.1483+87T>A	XP_005251921.1:n.1483+87T>A
XM_011518437.1:c.1420T>A	XP_011516739.1:p.Leu474Met
XM_011518438.1:c.1420T>A	XP_011516740.1:p.Leu474Met
XM_011518439.1:c.727T>A	XP_011516741.1:p.Leu243Met
XR_242581.2:n.1467T>A
XR_242582.2:n.1380+87T>A
XM_005251864.4:c.1483+87T>A	XP_005251921.1:n.1483+87T>A
XM_011518439.2:c.727T>A	XP_011516741.1:p.Leu243Met
XM_017014565.2:c.1333+87T>A	XP_016870054.1:n.1333+87T>A
XM_017014566.1:c.727T>A	XP_016870055.1:p.Leu243Met
XR_242581.4:n.1465T>A
XR_242582.4:n.1378+87T>A
NM_004957.6:c.1570T>A MANE Select	NP_004948.4:p.Leu524Met