Canonical Allele Identifier: CA374967605

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813604-G-T
• MyVariant Identifiers: chr9:g.130575883G>T (hg19) ; chr9:g.127813604G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813604G>T , CM000671.2:g.127813604G>T	GRCh38
NC_000009.11:g.130575883G>T , CM000671.1:g.130575883G>T	GRCh37
NC_000009.10:g.129615704G>T	NCBI36
NG_009551.1:g.46165C>A , LRG_589:g.46165C>A
NG_023245.1:g.15730G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1764G>T MANE Select	ENSP00000362344.2:p.Ter588Tyr
ENST00000373225.7:c.1614G>T	ENSP00000362322.3:p.Ter538Tyr
ENST00000373247.6:c.1764G>T	ENSP00000362344.2:p.Ter588Tyr
ENST00000393706.6:c.1686G>T	ENSP00000377309.2:p.Ter562Tyr
ENST00000460181.5:n.1752G>T
ENST00000467826.5:n.709+281G>T
ENST00000630236.2:c.*488G>T	ENSP00000486766.1:n.*488G>T
NM_001018078.2:c.1614G>T	NP_001018088.1:p.Ter538Tyr
NM_001288803.1:c.1686G>T	NP_001275732.1:p.Ter562Tyr
NM_004957.5:c.1764G>T	NP_004948.4:p.Ter588Tyr
NR_110170.1:n.1812G>T
XM_005251864.2:c.1483+281G>T	XP_005251921.1:n.1483+281G>T
XM_011518437.1:c.1614G>T	XP_011516739.1:p.Ter538Tyr
XM_011518438.1:c.1614G>T	XP_011516740.1:p.Ter538Tyr
XM_011518439.1:c.921G>T	XP_011516741.1:p.Ter307Tyr
XR_242581.2:n.1661G>T
XR_242582.2:n.1380+281G>T
XM_005251864.4:c.1483+281G>T	XP_005251921.1:n.1483+281G>T
XM_011518439.2:c.921G>T	XP_011516741.1:p.Ter307Tyr
XM_017014565.2:c.1333+281G>T	XP_016870054.1:n.1333+281G>T
XM_017014566.1:c.921G>T	XP_016870055.1:p.Ter307Tyr
XR_242581.4:n.1659G>T
XR_242582.4:n.1378+281G>T
NM_004957.6:c.1764G>T MANE Select	NP_004948.4:p.Ter588Tyr