Canonical Allele Identifier: CA375046314

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303383A>C (hg19) ; chr9:g.128541104A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541104A>C , CM000671.2:g.128541104A>C	GRCh38
NC_000009.11:g.131303383A>C , CM000671.1:g.131303383A>C	GRCh37
NC_000009.10:g.130343204A>C	NCBI36
NG_012073.1:g.41413A>C , LRG_484:g.41413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1102A>C	ENSP00000507095.1:n.*1102A>C
ENST00000683288.1:c.*2030A>C	ENSP00000507477.1:n.*2030A>C
ENST00000683748.1:c.2058A>C	ENSP00000507377.1:p.Lys686Asn
ENST00000683905.1:c.*707A>C	ENSP00000506960.1:n.*707A>C
ENST00000684139.1:c.1566A>C	ENSP00000507295.1:p.Lys522Asn
ENST00000684210.1:n.1744A>C
ENST00000684314.1:c.1926A>C	ENSP00000507700.1:p.Lys642Asn
ENST00000684331.1:c.*751A>C	ENSP00000507431.1:n.*751A>C
ENST00000684463.1:n.669A>C
ENST00000684646.1:c.1818A>C	ENSP00000507723.1:p.Lys606Asn
ENST00000309971.9:c.2031A>C MANE Select	ENSP00000308622.5:p.Lys677Asn
ENST00000309971.8:c.2031A>C	ENSP00000308622.4:p.Lys677Asn
NM_001003722.1:c.2031A>C , LRG_484t1:c.2031A>C	NP_001003722.1:p.Lys677Asn
XM_006717059.2:c.2067A>C	XP_006717122.1:p.Lys689Asn
XM_006717060.2:c.2040A>C	XP_006717123.1:p.Lys680Asn
XM_011518549.1:c.2067A>C	XP_011516851.1:p.Lys689Asn
XM_011518550.1:c.2067A>C	XP_011516852.1:p.Lys689Asn
XM_011518551.1:c.2058A>C	XP_011516853.1:p.Lys686Asn
XM_011518552.1:c.1308A>C	XP_011516854.1:p.Lys436Asn
XR_242681.3:n.100+2275T>G
XM_006717059.3:c.2067A>C	XP_006717122.1:p.Lys689Asn
XM_006717060.3:c.2040A>C	XP_006717123.1:p.Lys680Asn
XM_011518551.2:c.2058A>C	XP_011516853.1:p.Lys686Asn
XM_024447519.1:c.2040A>C	XP_024303287.1:p.Lys680Asn
NM_001003722.2:c.2031A>C MANE Select	NP_001003722.1:p.Lys677Asn