Canonical Allele Identifier: CA1980352

Gene: AGPS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177505549C>T , CM000664.2:g.177505549C>T	GRCh38
NC_000002.11:g.178370277C>T , CM000664.1:g.178370277C>T	GRCh37
NC_000002.10:g.178078523C>T	NCBI36
NG_008968.1:g.117807C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003659.4:c.1519C>T MANE Select	NP_003650.1:p.Leu507=
ENST00000264167.11:c.1519C>T MANE Select	ENSP00000264167.4:p.Leu507=
NM_003659.3:c.1519C>T	NP_003650.1:p.Leu507=
ENST00000264167.8:c.1519C>T	ENSP00000264167.4:p.Leu507=
ENST00000409888.1:c.351-15780C>T	ENSP00000386688.1:n.351-15780C>T
ENST00000637633.2:c.1519C>T	ENSP00000490844.2:p.Leu507=
ENST00000642466.2:c.1519C>T	ENSP00000494433.2:p.Leu507=
ENST00000679421.1:n.2748C>T
ENST00000679459.1:c.1519C>T	ENSP00000506137.1:p.Leu507=
ENST00000679478.1:c.1249C>T	ENSP00000506484.1:p.Leu417=
ENST00000679994.1:c.1249C>T	ENSP00000504957.1:p.Leu417=
ENST00000680028.1:n.2883C>T
ENST00000680155.1:c.1249C>T	ENSP00000505333.1:p.Leu417=
ENST00000680390.1:n.554C>T
ENST00000680705.1:n.1563C>T
ENST00000680770.1:c.1519C>T	ENSP00000505536.1:p.Leu507=
ENST00000680893.1:c.*767C>T	ENSP00000505929.1:n.*767C>T
ENST00000681028.1:c.1206-2421C>T	ENSP00000506323.1:n.1206-2421C>T
ENST00000681032.1:c.*897C>T	ENSP00000505205.1:n.*897C>T
ENST00000681300.1:n.474C>T
ENST00000681449.1:c.1249C>T	ENSP00000505342.1:p.Leu417=
ENST00000681565.1:c.*652C>T	ENSP00000505620.1:n.*652C>T
ENST00000681752.1:c.*1289C>T	ENSP00000504994.1:n.*1289C>T
ENST00000681891.1:n.5154C>T
XM_011512041.1:c.1249C>T	XP_011510343.1:p.Leu417=
XM_011512041.2:c.1249C>T	XP_011510343.1:p.Leu417=
XM_011512042.1:c.1249C>T	XP_011510344.1:p.Leu417=
XM_011512043.1:c.784C>T	XP_011510345.1:p.Leu262=
XM_011512043.2:c.784C>T	XP_011510345.1:p.Leu262=
XR_001739007.2:n.1427C>T