Canonical Allele Identifier: CA374965082

Gene: FPGS

Linked Data

• gnomAD v4: 9-127813368-T-C
• MyVariant Identifiers: chr9:g.130575647T>C (hg19) ; chr9:g.127813368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813368T>C , CM000671.2:g.127813368T>C	GRCh38
NC_000009.11:g.130575647T>C , CM000671.1:g.130575647T>C	GRCh37
NC_000009.10:g.129615468T>C	NCBI36
NG_009551.1:g.46401A>G , LRG_589:g.46401A>G
NG_023245.1:g.15494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1528T>C MANE Select	ENSP00000362344.2:p.Cys510Arg
ENST00000373225.7:c.1378T>C	ENSP00000362322.3:p.Cys460Arg
ENST00000373228.5:c.*185T>C	ENSP00000362325.1:n.*185T>C
ENST00000373247.6:c.1528T>C	ENSP00000362344.2:p.Cys510Arg
ENST00000393706.6:c.1450T>C	ENSP00000377309.2:p.Cys484Arg
ENST00000460181.5:n.1516T>C
ENST00000467826.5:n.709+45T>C
ENST00000475270.1:n.354T>C
ENST00000630236.2:c.*252T>C	ENSP00000486766.1:n.*252T>C
NM_001018078.2:c.1378T>C	NP_001018088.1:p.Cys460Arg
NM_001288803.1:c.1450T>C	NP_001275732.1:p.Cys484Arg
NM_004957.5:c.1528T>C	NP_004948.4:p.Cys510Arg
NR_110170.1:n.1576T>C
XM_005251864.2:c.1483+45T>C	XP_005251921.1:n.1483+45T>C
XM_011518437.1:c.1378T>C	XP_011516739.1:p.Cys460Arg
XM_011518438.1:c.1378T>C	XP_011516740.1:p.Cys460Arg
XM_011518439.1:c.685T>C	XP_011516741.1:p.Cys229Arg
XR_242581.2:n.1425T>C
XR_242582.2:n.1380+45T>C
XM_005251864.4:c.1483+45T>C	XP_005251921.1:n.1483+45T>C
XM_011518439.2:c.685T>C	XP_011516741.1:p.Cys229Arg
XM_017014565.2:c.1333+45T>C	XP_016870054.1:n.1333+45T>C
XM_017014566.1:c.685T>C	XP_016870055.1:p.Cys229Arg
XR_242581.4:n.1423T>C
XR_242582.4:n.1378+45T>C
NM_004957.6:c.1528T>C MANE Select	NP_004948.4:p.Cys510Arg