Canonical Allele Identifier: CA200296891

Gene: FPGS

Linked Data

• dbSNP Id: rs199525158
• gnomAD v2: 9-130575618-T-C
• gnomAD v3: 9-127813339-T-C
• gnomAD v4: 9-127813339-T-C
• MyVariant Identifiers: chr9:g.130575618T>C (hg19) ; chr9:g.127813339T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127813339T>C , CM000671.2:g.127813339T>C	GRCh38
NC_000009.11:g.130575618T>C , CM000671.1:g.130575618T>C	GRCh37
NC_000009.10:g.129615439T>C	NCBI36
NG_009551.1:g.46430A>G , LRG_589:g.46430A>G
NG_023245.1:g.15465T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373247.7:c.1499T>C MANE Select	ENSP00000362344.2:p.Leu500Pro
ENST00000373225.7:c.1349T>C	ENSP00000362322.3:p.Leu450Pro
ENST00000373228.5:c.*156T>C	ENSP00000362325.1:n.*156T>C
ENST00000373247.6:c.1499T>C	ENSP00000362344.2:p.Leu500Pro
ENST00000393706.6:c.1421T>C	ENSP00000377309.2:p.Leu474Pro
ENST00000460181.5:n.1487T>C
ENST00000467826.5:n.709+16T>C
ENST00000475270.1:n.325T>C
ENST00000630236.2:c.*223T>C	ENSP00000486766.1:n.*223T>C
NM_001018078.2:c.1349T>C	NP_001018088.1:p.Leu450Pro
NM_001288803.1:c.1421T>C	NP_001275732.1:p.Leu474Pro
NM_004957.5:c.1499T>C	NP_004948.4:p.Leu500Pro
NR_110170.1:n.1547T>C
XM_005251864.2:c.1483+16T>C	XP_005251921.1:n.1483+16T>C
XM_011518437.1:c.1349T>C	XP_011516739.1:p.Leu450Pro
XM_011518438.1:c.1349T>C	XP_011516740.1:p.Leu450Pro
XM_011518439.1:c.656T>C	XP_011516741.1:p.Leu219Pro
XR_242581.2:n.1396T>C
XR_242582.2:n.1380+16T>C
XM_005251864.4:c.1483+16T>C	XP_005251921.1:n.1483+16T>C
XM_011518439.2:c.656T>C	XP_011516741.1:p.Leu219Pro
XM_017014565.2:c.1333+16T>C	XP_016870054.1:n.1333+16T>C
XM_017014566.1:c.656T>C	XP_016870055.1:p.Leu219Pro
XR_242581.4:n.1394T>C
XR_242582.4:n.1378+16T>C
NM_004957.6:c.1499T>C MANE Select	NP_004948.4:p.Leu500Pro