Canonical Allele Identifier: CA375046443

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303442G>C (hg19) ; chr9:g.128541163G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541163G>C , CM000671.2:g.128541163G>C	GRCh38
NC_000009.11:g.131303442G>C , CM000671.1:g.131303442G>C	GRCh37
NC_000009.10:g.130343263G>C	NCBI36
NG_012073.1:g.41472G>C , LRG_484:g.41472G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1161G>C	ENSP00000507095.1:n.*1161G>C
ENST00000683288.1:c.*2089G>C	ENSP00000507477.1:n.*2089G>C
ENST00000683748.1:c.2117G>C	ENSP00000507377.1:p.Arg706Pro
ENST00000683905.1:c.*766G>C	ENSP00000506960.1:n.*766G>C
ENST00000684139.1:c.1625G>C	ENSP00000507295.1:p.Arg542Pro
ENST00000684210.1:n.1803G>C
ENST00000684314.1:c.1985G>C	ENSP00000507700.1:p.Arg662Pro
ENST00000684331.1:c.*810G>C	ENSP00000507431.1:n.*810G>C
ENST00000684463.1:n.728G>C
ENST00000684646.1:c.1877G>C	ENSP00000507723.1:p.Arg626Pro
ENST00000309971.9:c.2090G>C MANE Select	ENSP00000308622.5:p.Arg697Pro
ENST00000309971.8:c.2090G>C	ENSP00000308622.4:p.Arg697Pro
NM_001003722.1:c.2090G>C , LRG_484t1:c.2090G>C	NP_001003722.1:p.Arg697Pro
XM_006717059.2:c.2126G>C	XP_006717122.1:p.Arg709Pro
XM_006717060.2:c.2099G>C	XP_006717123.1:p.Arg700Pro
XM_011518549.1:c.2126G>C	XP_011516851.1:p.Arg709Pro
XM_011518550.1:c.2126G>C	XP_011516852.1:p.Arg709Pro
XM_011518551.1:c.2117G>C	XP_011516853.1:p.Arg706Pro
XM_011518552.1:c.1367G>C	XP_011516854.1:p.Arg456Pro
XR_242681.3:n.100+2216C>G
XM_006717059.3:c.2126G>C	XP_006717122.1:p.Arg709Pro
XM_006717060.3:c.2099G>C	XP_006717123.1:p.Arg700Pro
XM_011518551.2:c.2117G>C	XP_011516853.1:p.Arg706Pro
XM_024447519.1:c.2099G>C	XP_024303287.1:p.Arg700Pro
NM_001003722.2:c.2090G>C MANE Select	NP_001003722.1:p.Arg697Pro