Canonical Allele Identifier: CA1980399

Gene: AGPS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177513876G>A , CM000664.2:g.177513876G>A	GRCh38
NC_000002.11:g.178378604G>A , CM000664.1:g.178378604G>A	GRCh37
NC_000002.10:g.178086850G>A	NCBI36
NG_008968.1:g.126134G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003659.4:c.1665G>A MANE Select	NP_003650.1:p.Lys555=
ENST00000264167.11:c.1665G>A MANE Select	ENSP00000264167.4:p.Lys555=
NM_003659.3:c.1665G>A	NP_003650.1:p.Lys555=
ENST00000264167.8:c.1665G>A	ENSP00000264167.4:p.Lys555=
ENST00000409888.1:c.351-7453G>A	ENSP00000386688.1:n.351-7453G>A
ENST00000637633.2:c.1665G>A	ENSP00000490844.2:p.Lys555=
ENST00000642466.2:c.1665G>A	ENSP00000494433.2:p.Lys555=
ENST00000679421.1:n.2894G>A
ENST00000679459.1:c.1665G>A	ENSP00000506137.1:p.Lys555=
ENST00000679478.1:c.1395G>A	ENSP00000506484.1:p.Lys465=
ENST00000679994.1:c.1395G>A	ENSP00000504957.1:p.Lys465=
ENST00000680028.1:n.3029G>A
ENST00000680155.1:c.1395G>A	ENSP00000505333.1:p.Lys465=
ENST00000680390.1:n.700G>A
ENST00000680770.1:c.1665G>A	ENSP00000505536.1:p.Lys555=
ENST00000680893.1:c.*913G>A	ENSP00000505929.1:n.*913G>A
ENST00000681028.1:c.*92G>A	ENSP00000506323.1:n.*92G>A
ENST00000681032.1:c.*1043G>A	ENSP00000505205.1:n.*1043G>A
ENST00000681300.1:n.620G>A
ENST00000681449.1:c.1395G>A	ENSP00000505342.1:p.Lys465=
ENST00000681565.1:c.*798G>A	ENSP00000505620.1:n.*798G>A
ENST00000681752.1:c.*1435G>A	ENSP00000504994.1:n.*1435G>A
ENST00000681891.1:n.5300G>A
XM_011512041.1:c.1395G>A	XP_011510343.1:p.Lys465=
XM_011512041.2:c.1395G>A	XP_011510343.1:p.Lys465=
XM_011512042.1:c.1395G>A	XP_011510344.1:p.Lys465=
XM_011512043.1:c.930G>A	XP_011510345.1:p.Lys310=
XM_011512043.2:c.930G>A	XP_011510345.1:p.Lys310=
XR_001739007.2:n.1573G>A