Canonical Allele Identifier: CA375046308

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303381A>C (hg19) ; chr9:g.128541102A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541102A>C , CM000671.2:g.128541102A>C	GRCh38
NC_000009.11:g.131303381A>C , CM000671.1:g.131303381A>C	GRCh37
NC_000009.10:g.130343202A>C	NCBI36
NG_012073.1:g.41411A>C , LRG_484:g.41411A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1100A>C	ENSP00000507095.1:n.*1100A>C
ENST00000683288.1:c.*2028A>C	ENSP00000507477.1:n.*2028A>C
ENST00000683748.1:c.2056A>C	ENSP00000507377.1:p.Lys686Gln
ENST00000683905.1:c.*705A>C	ENSP00000506960.1:n.*705A>C
ENST00000684139.1:c.1564A>C	ENSP00000507295.1:p.Lys522Gln
ENST00000684210.1:n.1742A>C
ENST00000684314.1:c.1924A>C	ENSP00000507700.1:p.Lys642Gln
ENST00000684331.1:c.*749A>C	ENSP00000507431.1:n.*749A>C
ENST00000684463.1:n.667A>C
ENST00000684646.1:c.1816A>C	ENSP00000507723.1:p.Lys606Gln
ENST00000309971.9:c.2029A>C MANE Select	ENSP00000308622.5:p.Lys677Gln
ENST00000309971.8:c.2029A>C	ENSP00000308622.4:p.Lys677Gln
NM_001003722.1:c.2029A>C , LRG_484t1:c.2029A>C	NP_001003722.1:p.Lys677Gln
XM_006717059.2:c.2065A>C	XP_006717122.1:p.Lys689Gln
XM_006717060.2:c.2038A>C	XP_006717123.1:p.Lys680Gln
XM_011518549.1:c.2065A>C	XP_011516851.1:p.Lys689Gln
XM_011518550.1:c.2065A>C	XP_011516852.1:p.Lys689Gln
XM_011518551.1:c.2056A>C	XP_011516853.1:p.Lys686Gln
XM_011518552.1:c.1306A>C	XP_011516854.1:p.Lys436Gln
XR_242681.3:n.100+2277T>G
XM_006717059.3:c.2065A>C	XP_006717122.1:p.Lys689Gln
XM_006717060.3:c.2038A>C	XP_006717123.1:p.Lys680Gln
XM_011518551.2:c.2056A>C	XP_011516853.1:p.Lys686Gln
XM_024447519.1:c.2038A>C	XP_024303287.1:p.Lys680Gln
NM_001003722.2:c.2029A>C MANE Select	NP_001003722.1:p.Lys677Gln