Canonical Allele Identifier: CA467474212

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575815C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813536C>T , CM000671.2:g.127813536C>T	GRCh38
NC_000009.11:g.130575815C>T , CM000671.1:g.130575815C>T	GRCh37
NC_000009.10:g.129615636C>T	NCBI36
NG_009551.1:g.46233G>A , LRG_589:g.46233G>A
NG_023245.1:g.15662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1696C>T MANE Select	ENSP00000362344.2:p.Leu566=
ENST00000373225.7:c.1546C>T	ENSP00000362322.3:p.Leu516=
ENST00000373247.6:c.1696C>T	ENSP00000362344.2:p.Leu566=
ENST00000393706.6:c.1618C>T	ENSP00000377309.2:p.Leu540=
ENST00000460181.5:n.1684C>T
ENST00000467826.5:n.709+213C>T
ENST00000475270.1:n.522C>T
ENST00000630236.2:c.*420C>T	ENSP00000486766.1:n.*420C>T
NM_001018078.2:c.1546C>T	NP_001018088.1:p.Leu516=
NM_001288803.1:c.1618C>T	NP_001275732.1:p.Leu540=
NM_004957.5:c.1696C>T	NP_004948.4:p.Leu566=
NR_110170.1:n.1744C>T
XM_005251864.2:c.1483+213C>T	XP_005251921.1:n.1483+213C>T
XM_011518437.1:c.1546C>T	XP_011516739.1:p.Leu516=
XM_011518438.1:c.1546C>T	XP_011516740.1:p.Leu516=
XM_011518439.1:c.853C>T	XP_011516741.1:p.Leu285=
XR_242581.2:n.1593C>T
XR_242582.2:n.1380+213C>T
XM_005251864.4:c.1483+213C>T	XP_005251921.1:n.1483+213C>T
XM_011518439.2:c.853C>T	XP_011516741.1:p.Leu285=
XM_017014565.2:c.1333+213C>T	XP_016870054.1:n.1333+213C>T
XM_017014566.1:c.853C>T	XP_016870055.1:p.Leu285=
XR_242581.4:n.1591C>T
XR_242582.4:n.1378+213C>T
NM_004957.6:c.1696C>T MANE Select	NP_004948.4:p.Leu566=