Canonical Allele Identifier: CA375046111

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302559A>C (hg19) ; chr9:g.128540280A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540280A>C , CM000671.2:g.128540280A>C	GRCh38
NC_000009.11:g.131302559A>C , CM000671.1:g.131302559A>C	GRCh37
NC_000009.10:g.130342380A>C	NCBI36
NG_012073.1:g.40589A>C , LRG_484:g.40589A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1041A>C	ENSP00000507095.1:n.*1041A>C
ENST00000683288.1:c.*1969A>C	ENSP00000507477.1:n.*1969A>C
ENST00000683748.1:c.1997A>C	ENSP00000507377.1:p.Glu666Ala
ENST00000683905.1:c.*646A>C	ENSP00000506960.1:n.*646A>C
ENST00000684139.1:c.1505A>C	ENSP00000507295.1:p.Glu502Ala
ENST00000684210.1:n.1683A>C
ENST00000684314.1:c.1865A>C	ENSP00000507700.1:p.Glu622Ala
ENST00000684331.1:c.1970A>C	ENSP00000507431.1:p.Glu657Ala
ENST00000684463.1:n.608A>C
ENST00000684646.1:c.1757A>C	ENSP00000507723.1:p.Glu586Ala
ENST00000309971.9:c.1970A>C MANE Select	ENSP00000308622.5:p.Glu657Ala
ENST00000309971.8:c.1970A>C	ENSP00000308622.4:p.Glu657Ala
NM_001003722.1:c.1970A>C , LRG_484t1:c.1970A>C	NP_001003722.1:p.Glu657Ala
XM_006717059.2:c.2006A>C	XP_006717122.1:p.Glu669Ala
XM_006717060.2:c.1979A>C	XP_006717123.1:p.Glu660Ala
XM_011518549.1:c.2006A>C	XP_011516851.1:p.Glu669Ala
XM_011518550.1:c.2006A>C	XP_011516852.1:p.Glu669Ala
XM_011518551.1:c.1997A>C	XP_011516853.1:p.Glu666Ala
XM_011518552.1:c.1247A>C	XP_011516854.1:p.Glu416Ala
XR_242681.3:n.100+3099T>G
XR_428600.2:n.124+690T>G
XM_006717059.3:c.2006A>C	XP_006717122.1:p.Glu669Ala
XM_006717060.3:c.1979A>C	XP_006717123.1:p.Glu660Ala
XM_011518551.2:c.1997A>C	XP_011516853.1:p.Glu666Ala
XM_024447519.1:c.1979A>C	XP_024303287.1:p.Glu660Ala
XR_428600.3:n.126+690T>G
NM_001003722.2:c.1970A>C MANE Select	NP_001003722.1:p.Glu657Ala