Canonical Allele Identifier: CA1980374

Gene: AGPS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177507993A>G , CM000664.2:g.177507993A>G	GRCh38
NC_000002.11:g.178372721A>G , CM000664.1:g.178372721A>G	GRCh37
NC_000002.10:g.178080967A>G	NCBI36
NG_008968.1:g.120251A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003659.4:c.1569A>G MANE Select	NP_003650.1:p.Val523=
ENST00000264167.11:c.1569A>G MANE Select	ENSP00000264167.4:p.Val523=
NM_003659.3:c.1569A>G	NP_003650.1:p.Val523=
ENST00000264167.8:c.1569A>G	ENSP00000264167.4:p.Val523=
ENST00000409888.1:c.351-13336A>G	ENSP00000386688.1:n.351-13336A>G
ENST00000637633.2:c.1569A>G	ENSP00000490844.2:p.Val523=
ENST00000642466.2:c.1569A>G	ENSP00000494433.2:p.Val523=
ENST00000679421.1:n.2798A>G
ENST00000679459.1:c.1569A>G	ENSP00000506137.1:p.Val523=
ENST00000679478.1:c.1299A>G	ENSP00000506484.1:p.Val433=
ENST00000679994.1:c.1299A>G	ENSP00000504957.1:p.Val433=
ENST00000680028.1:n.2933A>G
ENST00000680155.1:c.1299A>G	ENSP00000505333.1:p.Val433=
ENST00000680390.1:n.604A>G
ENST00000680705.1:n.1613A>G
ENST00000680770.1:c.1569A>G	ENSP00000505536.1:p.Val523=
ENST00000680893.1:c.*817A>G	ENSP00000505929.1:n.*817A>G
ENST00000681028.1:c.1229A>G	ENSP00000506323.1:p.Tyr410Cys
ENST00000681032.1:c.*947A>G	ENSP00000505205.1:n.*947A>G
ENST00000681300.1:n.524A>G
ENST00000681449.1:c.1299A>G	ENSP00000505342.1:p.Val433=
ENST00000681565.1:c.*702A>G	ENSP00000505620.1:n.*702A>G
ENST00000681752.1:c.*1339A>G	ENSP00000504994.1:n.*1339A>G
ENST00000681891.1:n.5204A>G
XM_011512041.1:c.1299A>G	XP_011510343.1:p.Val433=
XM_011512041.2:c.1299A>G	XP_011510343.1:p.Val433=
XM_011512042.1:c.1299A>G	XP_011510344.1:p.Val433=
XM_011512043.1:c.834A>G	XP_011510345.1:p.Val278=
XM_011512043.2:c.834A>G	XP_011510345.1:p.Val278=
XR_001739007.2:n.1477A>G