Canonical Allele Identifier: CA374965221

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813378-G-T
• MyVariant Identifiers: chr9:g.130575657G>T (hg19) ; chr9:g.127813378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813378G>T , CM000671.2:g.127813378G>T	GRCh38
NC_000009.11:g.130575657G>T , CM000671.1:g.130575657G>T	GRCh37
NC_000009.10:g.129615478G>T	NCBI36
NG_009551.1:g.46391C>A , LRG_589:g.46391C>A
NG_023245.1:g.15504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1538G>T MANE Select	ENSP00000362344.2:p.Ser513Ile
ENST00000373225.7:c.1388G>T	ENSP00000362322.3:p.Ser463Ile
ENST00000373228.5:c.*195G>T	ENSP00000362325.1:n.*195G>T
ENST00000373247.6:c.1538G>T	ENSP00000362344.2:p.Ser513Ile
ENST00000393706.6:c.1460G>T	ENSP00000377309.2:p.Ser487Ile
ENST00000460181.5:n.1526G>T
ENST00000467826.5:n.709+55G>T
ENST00000475270.1:n.364G>T
ENST00000630236.2:c.*262G>T	ENSP00000486766.1:n.*262G>T
NM_001018078.2:c.1388G>T	NP_001018088.1:p.Ser463Ile
NM_001288803.1:c.1460G>T	NP_001275732.1:p.Ser487Ile
NM_004957.5:c.1538G>T	NP_004948.4:p.Ser513Ile
NR_110170.1:n.1586G>T
XM_005251864.2:c.1483+55G>T	XP_005251921.1:n.1483+55G>T
XM_011518437.1:c.1388G>T	XP_011516739.1:p.Ser463Ile
XM_011518438.1:c.1388G>T	XP_011516740.1:p.Ser463Ile
XM_011518439.1:c.695G>T	XP_011516741.1:p.Ser232Ile
XR_242581.2:n.1435G>T
XR_242582.2:n.1380+55G>T
XM_005251864.4:c.1483+55G>T	XP_005251921.1:n.1483+55G>T
XM_011518439.2:c.695G>T	XP_011516741.1:p.Ser232Ile
XM_017014565.2:c.1333+55G>T	XP_016870054.1:n.1333+55G>T
XM_017014566.1:c.695G>T	XP_016870055.1:p.Ser232Ile
XR_242581.4:n.1433G>T
XR_242582.4:n.1378+55G>T
NM_004957.6:c.1538G>T MANE Select	NP_004948.4:p.Ser513Ile