Canonical Allele Identifier: CA375046130

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302562C>T (hg19) ; chr9:g.128540283C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540283C>T , CM000671.2:g.128540283C>T	GRCh38
NC_000009.11:g.131302562C>T , CM000671.1:g.131302562C>T	GRCh37
NC_000009.10:g.130342383C>T	NCBI36
NG_012073.1:g.40592C>T , LRG_484:g.40592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1044C>T	ENSP00000507095.1:n.*1044C>T
ENST00000683288.1:c.*1972C>T	ENSP00000507477.1:n.*1972C>T
ENST00000683748.1:c.2000C>T	ENSP00000507377.1:p.Ala667Val
ENST00000683905.1:c.*649C>T	ENSP00000506960.1:n.*649C>T
ENST00000684139.1:c.1508C>T	ENSP00000507295.1:p.Ala503Val
ENST00000684210.1:n.1686C>T
ENST00000684314.1:c.1868C>T	ENSP00000507700.1:p.Ala623Val
ENST00000684331.1:c.1973C>T	ENSP00000507431.1:p.Ala658Val
ENST00000684463.1:n.611C>T
ENST00000684646.1:c.1760C>T	ENSP00000507723.1:p.Ala587Val
ENST00000309971.9:c.1973C>T MANE Select	ENSP00000308622.5:p.Ala658Val
ENST00000309971.8:c.1973C>T	ENSP00000308622.4:p.Ala658Val
NM_001003722.1:c.1973C>T , LRG_484t1:c.1973C>T	NP_001003722.1:p.Ala658Val
XM_006717059.2:c.2009C>T	XP_006717122.1:p.Ala670Val
XM_006717060.2:c.1982C>T	XP_006717123.1:p.Ala661Val
XM_011518549.1:c.2009C>T	XP_011516851.1:p.Ala670Val
XM_011518550.1:c.2009C>T	XP_011516852.1:p.Ala670Val
XM_011518551.1:c.2000C>T	XP_011516853.1:p.Ala667Val
XM_011518552.1:c.1250C>T	XP_011516854.1:p.Ala417Val
XR_242681.3:n.100+3096G>A
XR_428600.2:n.124+687G>A
XM_006717059.3:c.2009C>T	XP_006717122.1:p.Ala670Val
XM_006717060.3:c.1982C>T	XP_006717123.1:p.Ala661Val
XM_011518551.2:c.2000C>T	XP_011516853.1:p.Ala667Val
XM_024447519.1:c.1982C>T	XP_024303287.1:p.Ala661Val
XR_428600.3:n.126+687G>A
NM_001003722.2:c.1973C>T MANE Select	NP_001003722.1:p.Ala658Val