Canonical Allele Identifier: CA467474914

Gene: FPGS

Linked Data

• dbSNP Id: rs377088199
• gnomAD v2: 9-130575601-C-G
• gnomAD v4: 9-127813322-C-G
• MyVariant Identifiers: chr9:g.130575601C>G (hg19) ; chr9:g.127813322C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813322C>G , CM000671.2:g.127813322C>G	GRCh38
NC_000009.11:g.130575601C>G , CM000671.1:g.130575601C>G	GRCh37
NC_000009.10:g.129615422C>G	NCBI36
NG_009551.1:g.46447G>C , LRG_589:g.46447G>C
NG_023245.1:g.15448C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1482C>G MANE Select	ENSP00000362344.2:p.Pro494=
ENST00000373225.7:c.1332C>G	ENSP00000362322.3:p.Pro444=
ENST00000373228.5:c.*139C>G	ENSP00000362325.1:n.*139C>G
ENST00000373247.6:c.1482C>G	ENSP00000362344.2:p.Pro494=
ENST00000393706.6:c.1404C>G	ENSP00000377309.2:p.Pro468=
ENST00000460181.5:n.1470C>G
ENST00000467826.5:n.708C>G
ENST00000475270.1:n.308C>G
ENST00000630236.2:c.*206C>G	ENSP00000486766.1:n.*206C>G
NM_001018078.2:c.1332C>G	NP_001018088.1:p.Pro444=
NM_001288803.1:c.1404C>G	NP_001275732.1:p.Pro468=
NM_004957.5:c.1482C>G	NP_004948.4:p.Pro494=
NR_110170.1:n.1530C>G
XM_005251864.2:c.1482C>G	XP_005251921.1:p.Pro494=
XM_011518437.1:c.1332C>G	XP_011516739.1:p.Pro444=
XM_011518438.1:c.1332C>G	XP_011516740.1:p.Pro444=
XM_011518439.1:c.639C>G	XP_011516741.1:p.Pro213=
XR_242581.2:n.1379C>G
XR_242582.2:n.1379C>G
XM_005251864.4:c.1482C>G	XP_005251921.1:p.Pro494=
XM_011518439.2:c.639C>G	XP_011516741.1:p.Pro213=
XM_017014565.2:c.1332C>G	XP_016870054.1:p.Pro444=
XM_017014566.1:c.639C>G	XP_016870055.1:p.Pro213=
XR_242581.4:n.1377C>G
XR_242582.4:n.1377C>G
NM_004957.6:c.1482C>G MANE Select	NP_004948.4:p.Pro494=