Canonical Allele Identifier: CA375046349

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303397A>C (hg19) ; chr9:g.128541118A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541118A>C , CM000671.2:g.128541118A>C	GRCh38
NC_000009.11:g.131303397A>C , CM000671.1:g.131303397A>C	GRCh37
NC_000009.10:g.130343218A>C	NCBI36
NG_012073.1:g.41427A>C , LRG_484:g.41427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1116A>C	ENSP00000507095.1:n.*1116A>C
ENST00000683288.1:c.*2044A>C	ENSP00000507477.1:n.*2044A>C
ENST00000683748.1:c.2072A>C	ENSP00000507377.1:p.Lys691Thr
ENST00000683905.1:c.*721A>C	ENSP00000506960.1:n.*721A>C
ENST00000684139.1:c.1580A>C	ENSP00000507295.1:p.Lys527Thr
ENST00000684210.1:n.1758A>C
ENST00000684314.1:c.1940A>C	ENSP00000507700.1:p.Lys647Thr
ENST00000684331.1:c.*765A>C	ENSP00000507431.1:n.*765A>C
ENST00000684463.1:n.683A>C
ENST00000684646.1:c.1832A>C	ENSP00000507723.1:p.Lys611Thr
ENST00000309971.9:c.2045A>C MANE Select	ENSP00000308622.5:p.Lys682Thr
ENST00000309971.8:c.2045A>C	ENSP00000308622.4:p.Lys682Thr
NM_001003722.1:c.2045A>C , LRG_484t1:c.2045A>C	NP_001003722.1:p.Lys682Thr
XM_006717059.2:c.2081A>C	XP_006717122.1:p.Lys694Thr
XM_006717060.2:c.2054A>C	XP_006717123.1:p.Lys685Thr
XM_011518549.1:c.2081A>C	XP_011516851.1:p.Lys694Thr
XM_011518550.1:c.2081A>C	XP_011516852.1:p.Lys694Thr
XM_011518551.1:c.2072A>C	XP_011516853.1:p.Lys691Thr
XM_011518552.1:c.1322A>C	XP_011516854.1:p.Lys441Thr
XR_242681.3:n.100+2261T>G
XM_006717059.3:c.2081A>C	XP_006717122.1:p.Lys694Thr
XM_006717060.3:c.2054A>C	XP_006717123.1:p.Lys685Thr
XM_011518551.2:c.2072A>C	XP_011516853.1:p.Lys691Thr
XM_024447519.1:c.2054A>C	XP_024303287.1:p.Lys685Thr
NM_001003722.2:c.2045A>C MANE Select	NP_001003722.1:p.Lys682Thr