Canonical Allele Identifier: CA1310061084

Gene: AGPS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177499661T= , CM000664.2:g.177499661T=	GRCh38
NC_000002.11:g.178364389T= , CM000664.1:g.178364389T=	GRCh37
NC_000002.10:g.178072635T=	NCBI36
NG_008968.1:g.111919T=

Transcript Alleles

HGVS	Amino-acid Change
NM_003659.4:c.1406T= MANE Select	NP_003650.1:p.Leu469=
ENST00000264167.11:c.1406T= MANE Select	ENSP00000264167.4:p.Leu469=
NM_003659.3:c.1406T=	NP_003650.1:p.Leu469=
ENST00000264167.8:c.1406T=	ENSP00000264167.4:p.Leu469=
ENST00000409888.1:c.351-21668T=	ENSP00000386688.1:n.351-21668T=
ENST00000637633.2:c.1406T=	ENSP00000490844.2:p.Leu469=
ENST00000642466.2:c.1406T=	ENSP00000494433.2:p.Leu469=
ENST00000679421.1:n.2635T=
ENST00000679459.1:c.1406T=	ENSP00000506137.1:p.Leu469=
ENST00000679478.1:c.1136T=	ENSP00000506484.1:p.Leu379=
ENST00000679994.1:c.1136T=	ENSP00000504957.1:p.Leu379=
ENST00000680028.1:n.2770T=
ENST00000680155.1:c.1136T=	ENSP00000505333.1:p.Leu379=
ENST00000680390.1:n.441T=
ENST00000680705.1:n.1450T=
ENST00000680770.1:c.1406T=	ENSP00000505536.1:p.Leu469=
ENST00000680893.1:c.*654T=	ENSP00000505929.1:n.*654T=
ENST00000680910.1:n.1436T=
ENST00000681028.1:c.1136T=	ENSP00000506323.1:p.Leu379=
ENST00000681032.1:c.*784T=	ENSP00000505205.1:n.*784T=
ENST00000681300.1:n.361T=
ENST00000681449.1:c.1136T=	ENSP00000505342.1:p.Leu379=
ENST00000681565.1:c.*539T=	ENSP00000505620.1:n.*539T=
ENST00000681752.1:c.*1176T=	ENSP00000504994.1:n.*1176T=
ENST00000681891.1:n.5041T=
XM_011512041.1:c.1136T=	XP_011510343.1:p.Leu379=
XM_011512041.2:c.1136T=	XP_011510343.1:p.Leu379=
XM_011512042.1:c.1136T=	XP_011510344.1:p.Leu379=
XM_011512043.1:c.671T=	XP_011510345.1:p.Leu224=
XM_011512043.2:c.671T=	XP_011510345.1:p.Leu224=
XR_001739007.2:n.1314T=