Canonical Allele Identifier: CA1880333316

Gene: GLE1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541144C= , CM000671.2:g.128541144C=	GRCh38
NC_000009.11:g.131303423C= , CM000671.1:g.131303423C=	GRCh37
NC_000009.10:g.130343244C=	NCBI36
NG_012073.1:g.41453C= , LRG_484:g.41453C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1142C=	ENSP00000507095.1:n.*1142C=
ENST00000683288.1:c.*2070C=	ENSP00000507477.1:n.*2070C=
ENST00000683748.1:c.2098C=	ENSP00000507377.1:p.Leu700=
ENST00000683905.1:c.*747C=	ENSP00000506960.1:n.*747C=
ENST00000684139.1:c.1606C=	ENSP00000507295.1:p.Leu536=
ENST00000684210.1:n.1784C=
ENST00000684314.1:c.1966C=	ENSP00000507700.1:p.Leu656=
ENST00000684331.1:c.*791C=	ENSP00000507431.1:n.*791C=
ENST00000684463.1:n.709C=
ENST00000684646.1:c.1858C=	ENSP00000507723.1:p.Leu620=
ENST00000309971.9:c.2071C= MANE Select	ENSP00000308622.5:p.Leu691=
ENST00000309971.8:c.2071C=	ENSP00000308622.4:p.Leu691=
NM_001003722.1:c.2071C= , LRG_484t1:c.2071C=	NP_001003722.1:p.Leu691=
XM_006717059.2:c.2107C=	XP_006717122.1:p.Leu703=
XM_006717060.2:c.2080C=	XP_006717123.1:p.Leu694=
XM_011518549.1:c.2107C=	XP_011516851.1:p.Leu703=
XM_011518550.1:c.2107C=	XP_011516852.1:p.Leu703=
XM_011518551.1:c.2098C=	XP_011516853.1:p.Leu700=
XM_011518552.1:c.1348C=	XP_011516854.1:p.Leu450=
XR_242681.3:n.100+2235G=
XM_006717059.3:c.2107C=	XP_006717122.1:p.Leu703=
XM_006717060.3:c.2080C=	XP_006717123.1:p.Leu694=
XM_011518551.2:c.2098C=	XP_011516853.1:p.Leu700=
XM_024447519.1:c.2080C=	XP_024303287.1:p.Leu694=
NM_001003722.2:c.2071C= MANE Select	NP_001003722.1:p.Leu691=