Canonical Allele Identifier: CA374965921

Gene: FPGS

Linked Data

• MyVariant Identifiers: chr9:g.130575726A>C (hg19) ; chr9:g.127813447A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813447A>C , CM000671.2:g.127813447A>C	GRCh38
NC_000009.11:g.130575726A>C , CM000671.1:g.130575726A>C	GRCh37
NC_000009.10:g.129615547A>C	NCBI36
NG_009551.1:g.46322T>G , LRG_589:g.46322T>G
NG_023245.1:g.15573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1607A>C MANE Select	ENSP00000362344.2:p.Gln536Pro
ENST00000373225.7:c.1457A>C	ENSP00000362322.3:p.Gln486Pro
ENST00000373247.6:c.1607A>C	ENSP00000362344.2:p.Gln536Pro
ENST00000393706.6:c.1529A>C	ENSP00000377309.2:p.Gln510Pro
ENST00000460181.5:n.1595A>C
ENST00000467826.5:n.709+124A>C
ENST00000475270.1:n.433A>C
ENST00000630236.2:c.*331A>C	ENSP00000486766.1:n.*331A>C
NM_001018078.2:c.1457A>C	NP_001018088.1:p.Gln486Pro
NM_001288803.1:c.1529A>C	NP_001275732.1:p.Gln510Pro
NM_004957.5:c.1607A>C	NP_004948.4:p.Gln536Pro
NR_110170.1:n.1655A>C
XM_005251864.2:c.1483+124A>C	XP_005251921.1:n.1483+124A>C
XM_011518437.1:c.1457A>C	XP_011516739.1:p.Gln486Pro
XM_011518438.1:c.1457A>C	XP_011516740.1:p.Gln486Pro
XM_011518439.1:c.764A>C	XP_011516741.1:p.Gln255Pro
XR_242581.2:n.1504A>C
XR_242582.2:n.1380+124A>C
XM_005251864.4:c.1483+124A>C	XP_005251921.1:n.1483+124A>C
XM_011518439.2:c.764A>C	XP_011516741.1:p.Gln255Pro
XM_017014565.2:c.1333+124A>C	XP_016870054.1:n.1333+124A>C
XM_017014566.1:c.764A>C	XP_016870055.1:p.Gln255Pro
XR_242581.4:n.1502A>C
XR_242582.4:n.1378+124A>C
NM_004957.6:c.1607A>C MANE Select	NP_004948.4:p.Gln536Pro