Canonical Allele Identifier: CA375046144

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302567A>C (hg19) ; chr9:g.128540288A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540288A>C , CM000671.2:g.128540288A>C	GRCh38
NC_000009.11:g.131302567A>C , CM000671.1:g.131302567A>C	GRCh37
NC_000009.10:g.130342388A>C	NCBI36
NG_012073.1:g.40597A>C , LRG_484:g.40597A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1049A>C	ENSP00000507095.1:n.*1049A>C
ENST00000683288.1:c.*1977A>C	ENSP00000507477.1:n.*1977A>C
ENST00000683748.1:c.2005A>C	ENSP00000507377.1:p.Thr669Pro
ENST00000683905.1:c.*654A>C	ENSP00000506960.1:n.*654A>C
ENST00000684139.1:c.1513A>C	ENSP00000507295.1:p.Thr505Pro
ENST00000684210.1:n.1691A>C
ENST00000684314.1:c.1873A>C	ENSP00000507700.1:p.Thr625Pro
ENST00000684331.1:c.1978A>C	ENSP00000507431.1:p.Thr660Pro
ENST00000684463.1:n.616A>C
ENST00000684646.1:c.1765A>C	ENSP00000507723.1:p.Thr589Pro
ENST00000309971.9:c.1978A>C MANE Select	ENSP00000308622.5:p.Thr660Pro
ENST00000309971.8:c.1978A>C	ENSP00000308622.4:p.Thr660Pro
NM_001003722.1:c.1978A>C , LRG_484t1:c.1978A>C	NP_001003722.1:p.Thr660Pro
XM_006717059.2:c.2014A>C	XP_006717122.1:p.Thr672Pro
XM_006717060.2:c.1987A>C	XP_006717123.1:p.Thr663Pro
XM_011518549.1:c.2014A>C	XP_011516851.1:p.Thr672Pro
XM_011518550.1:c.2014A>C	XP_011516852.1:p.Thr672Pro
XM_011518551.1:c.2005A>C	XP_011516853.1:p.Thr669Pro
XM_011518552.1:c.1255A>C	XP_011516854.1:p.Thr419Pro
XR_242681.3:n.100+3091T>G
XR_428600.2:n.124+682T>G
XM_006717059.3:c.2014A>C	XP_006717122.1:p.Thr672Pro
XM_006717060.3:c.1987A>C	XP_006717123.1:p.Thr663Pro
XM_011518551.2:c.2005A>C	XP_011516853.1:p.Thr669Pro
XM_024447519.1:c.1987A>C	XP_024303287.1:p.Thr663Pro
XR_428600.3:n.126+682T>G
NM_001003722.2:c.1978A>C MANE Select	NP_001003722.1:p.Thr660Pro