Canonical Allele Identifier: CA1980240

Gene: AGPS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177482157G>A , CM000664.2:g.177482157G>A	GRCh38
NC_000002.11:g.178346885G>A , CM000664.1:g.178346885G>A	GRCh37
NC_000002.10:g.178055131G>A	NCBI36
NG_008968.1:g.94415G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003659.4:c.1204G>A MANE Select	NP_003650.1:p.Val402Ile
ENST00000264167.11:c.1204G>A MANE Select	ENSP00000264167.4:p.Val402Ile
NM_003659.3:c.1204G>A	NP_003650.1:p.Val402Ile
ENST00000264167.8:c.1204G>A	ENSP00000264167.4:p.Val402Ile
ENST00000409888.1:c.351-39172G>A	ENSP00000386688.1:n.351-39172G>A
ENST00000637633.2:c.1204G>A	ENSP00000490844.2:p.Val402Ile
ENST00000642466.2:c.1204G>A	ENSP00000494433.2:p.Val402Ile
ENST00000679421.1:n.2433G>A
ENST00000679459.1:c.1204G>A	ENSP00000506137.1:p.Val402Ile
ENST00000679478.1:c.934G>A	ENSP00000506484.1:p.Val312Ile
ENST00000679994.1:c.934G>A	ENSP00000504957.1:p.Val312Ile
ENST00000680028.1:n.2568G>A
ENST00000680155.1:c.934G>A	ENSP00000505333.1:p.Val312Ile
ENST00000680390.1:n.239G>A
ENST00000680705.1:n.1248G>A
ENST00000680770.1:c.1204G>A	ENSP00000505536.1:p.Val402Ile
ENST00000680893.1:c.*452G>A	ENSP00000505929.1:n.*452G>A
ENST00000680910.1:n.1234G>A
ENST00000681028.1:c.934G>A	ENSP00000506323.1:p.Val312Ile
ENST00000681032.1:c.*582G>A	ENSP00000505205.1:n.*582G>A
ENST00000681300.1:n.159G>A
ENST00000681449.1:c.934G>A	ENSP00000505342.1:p.Val312Ile
ENST00000681565.1:c.*337G>A	ENSP00000505620.1:n.*337G>A
ENST00000681752.1:c.*974G>A	ENSP00000504994.1:n.*974G>A
ENST00000681891.1:n.4839G>A
XM_011512041.1:c.934G>A	XP_011510343.1:p.Val312Ile
XM_011512041.2:c.934G>A	XP_011510343.1:p.Val312Ile
XM_011512042.1:c.934G>A	XP_011510344.1:p.Val312Ile
XM_011512043.1:c.469G>A	XP_011510345.1:p.Val157Ile
XM_011512043.2:c.469G>A	XP_011510345.1:p.Val157Ile
XM_011512045.1:c.*84G>A	XP_011510347.1:n.*84G>A
XR_001739007.2:n.1112G>A