Canonical Allele Identifier: CA374965416

Gene: FPGS

Linked Data

• dbSNP Id: rs1830173003
• gnomAD v3: 9-127813398-A-C
• gnomAD v4: 9-127813398-A-C
• MyVariant Identifiers: chr9:g.130575677A>C (hg19) ; chr9:g.127813398A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813398A>C , CM000671.2:g.127813398A>C	GRCh38
NC_000009.11:g.130575677A>C , CM000671.1:g.130575677A>C	GRCh37
NC_000009.10:g.129615498A>C	NCBI36
NG_009551.1:g.46371T>G , LRG_589:g.46371T>G
NG_023245.1:g.15524A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1558A>C MANE Select	ENSP00000362344.2:p.Ile520Leu
ENST00000373225.7:c.1408A>C	ENSP00000362322.3:p.Ile470Leu
ENST00000373228.5:c.*215A>C	ENSP00000362325.1:n.*215A>C
ENST00000373247.6:c.1558A>C	ENSP00000362344.2:p.Ile520Leu
ENST00000393706.6:c.1480A>C	ENSP00000377309.2:p.Ile494Leu
ENST00000460181.5:n.1546A>C
ENST00000467826.5:n.709+75A>C
ENST00000475270.1:n.384A>C
ENST00000630236.2:c.*282A>C	ENSP00000486766.1:n.*282A>C
NM_001018078.2:c.1408A>C	NP_001018088.1:p.Ile470Leu
NM_001288803.1:c.1480A>C	NP_001275732.1:p.Ile494Leu
NM_004957.5:c.1558A>C	NP_004948.4:p.Ile520Leu
NR_110170.1:n.1606A>C
XM_005251864.2:c.1483+75A>C	XP_005251921.1:n.1483+75A>C
XM_011518437.1:c.1408A>C	XP_011516739.1:p.Ile470Leu
XM_011518438.1:c.1408A>C	XP_011516740.1:p.Ile470Leu
XM_011518439.1:c.715A>C	XP_011516741.1:p.Ile239Leu
XR_242581.2:n.1455A>C
XR_242582.2:n.1380+75A>C
XM_005251864.4:c.1483+75A>C	XP_005251921.1:n.1483+75A>C
XM_011518439.2:c.715A>C	XP_011516741.1:p.Ile239Leu
XM_017014565.2:c.1333+75A>C	XP_016870054.1:n.1333+75A>C
XM_017014566.1:c.715A>C	XP_016870055.1:p.Ile239Leu
XR_242581.4:n.1453A>C
XR_242582.4:n.1378+75A>C
NM_004957.6:c.1558A>C MANE Select	NP_004948.4:p.Ile520Leu