Canonical Allele Identifier: CA467474126

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575689T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1570T>C MANE Select	ENSP00000362344.2:p.Leu524=
ENST00000373225.7:c.1420T>C	ENSP00000362322.3:p.Leu474=
ENST00000373228.5:c.*227T>C	ENSP00000362325.1:n.*227T>C
ENST00000373247.6:c.1570T>C	ENSP00000362344.2:p.Leu524=
ENST00000393706.6:c.1492T>C	ENSP00000377309.2:p.Leu498=
ENST00000460181.5:n.1558T>C
ENST00000467826.5:n.709+87T>C
ENST00000475270.1:n.396T>C
ENST00000630236.2:c.*294T>C	ENSP00000486766.1:n.*294T>C
NM_001018078.2:c.1420T>C	NP_001018088.1:p.Leu474=
NM_001288803.1:c.1492T>C	NP_001275732.1:p.Leu498=
NM_004957.5:c.1570T>C	NP_004948.4:p.Leu524=
NR_110170.1:n.1618T>C
XM_005251864.2:c.1483+87T>C	XP_005251921.1:n.1483+87T>C
XM_011518437.1:c.1420T>C	XP_011516739.1:p.Leu474=
XM_011518438.1:c.1420T>C	XP_011516740.1:p.Leu474=
XM_011518439.1:c.727T>C	XP_011516741.1:p.Leu243=
XR_242581.2:n.1467T>C
XR_242582.2:n.1380+87T>C
XM_005251864.4:c.1483+87T>C	XP_005251921.1:n.1483+87T>C
XM_011518439.2:c.727T>C	XP_011516741.1:p.Leu243=
XM_017014565.2:c.1333+87T>C	XP_016870054.1:n.1333+87T>C
XM_017014566.1:c.727T>C	XP_016870055.1:p.Leu243=
XR_242581.4:n.1465T>C
XR_242582.4:n.1378+87T>C
NM_004957.6:c.1570T>C MANE Select	NP_004948.4:p.Leu524=