Canonical Allele Identifier: CA467288834

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303404T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541125T>C , CM000671.2:g.128541125T>C	GRCh38
NC_000009.11:g.131303404T>C , CM000671.1:g.131303404T>C	GRCh37
NC_000009.10:g.130343225T>C	NCBI36
NG_012073.1:g.41434T>C , LRG_484:g.41434T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1123T>C	ENSP00000507095.1:n.*1123T>C
ENST00000683288.1:c.*2051T>C	ENSP00000507477.1:n.*2051T>C
ENST00000683748.1:c.2079T>C	ENSP00000507377.1:p.Ile693=
ENST00000683905.1:c.*728T>C	ENSP00000506960.1:n.*728T>C
ENST00000684139.1:c.1587T>C	ENSP00000507295.1:p.Ile529=
ENST00000684210.1:n.1765T>C
ENST00000684314.1:c.1947T>C	ENSP00000507700.1:p.Ile649=
ENST00000684331.1:c.*772T>C	ENSP00000507431.1:n.*772T>C
ENST00000684463.1:n.690T>C
ENST00000684646.1:c.1839T>C	ENSP00000507723.1:p.Ile613=
ENST00000309971.9:c.2052T>C MANE Select	ENSP00000308622.5:p.Ile684=
ENST00000309971.8:c.2052T>C	ENSP00000308622.4:p.Ile684=
NM_001003722.1:c.2052T>C , LRG_484t1:c.2052T>C	NP_001003722.1:p.Ile684=
XM_006717059.2:c.2088T>C	XP_006717122.1:p.Ile696=
XM_006717060.2:c.2061T>C	XP_006717123.1:p.Ile687=
XM_011518549.1:c.2088T>C	XP_011516851.1:p.Ile696=
XM_011518550.1:c.2088T>C	XP_011516852.1:p.Ile696=
XM_011518551.1:c.2079T>C	XP_011516853.1:p.Ile693=
XM_011518552.1:c.1329T>C	XP_011516854.1:p.Ile443=
XR_242681.3:n.100+2254A>G
XM_006717059.3:c.2088T>C	XP_006717122.1:p.Ile696=
XM_006717060.3:c.2061T>C	XP_006717123.1:p.Ile687=
XM_011518551.2:c.2079T>C	XP_011516853.1:p.Ile693=
XM_024447519.1:c.2061T>C	XP_024303287.1:p.Ile687=
NM_001003722.2:c.2052T>C MANE Select	NP_001003722.1:p.Ile684=