Canonical Allele Identifier: CA467288872

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541152-C-T
• MyVariant Identifiers: chr9:g.131303431C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541152C>T , CM000671.2:g.128541152C>T	GRCh38
NC_000009.11:g.131303431C>T , CM000671.1:g.131303431C>T	GRCh37
NC_000009.10:g.130343252C>T	NCBI36
NG_012073.1:g.41461C>T , LRG_484:g.41461C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1150C>T	ENSP00000507095.1:n.*1150C>T
ENST00000683288.1:c.*2078C>T	ENSP00000507477.1:n.*2078C>T
ENST00000683748.1:c.2106C>T	ENSP00000507377.1:p.Ser702=
ENST00000683905.1:c.*755C>T	ENSP00000506960.1:n.*755C>T
ENST00000684139.1:c.1614C>T	ENSP00000507295.1:p.Ser538=
ENST00000684210.1:n.1792C>T
ENST00000684314.1:c.1974C>T	ENSP00000507700.1:p.Ser658=
ENST00000684331.1:c.*799C>T	ENSP00000507431.1:n.*799C>T
ENST00000684463.1:n.717C>T
ENST00000684646.1:c.1866C>T	ENSP00000507723.1:p.Ser622=
ENST00000309971.9:c.2079C>T MANE Select	ENSP00000308622.5:p.Ser693=
ENST00000309971.8:c.2079C>T	ENSP00000308622.4:p.Ser693=
NM_001003722.1:c.2079C>T , LRG_484t1:c.2079C>T	NP_001003722.1:p.Ser693=
XM_006717059.2:c.2115C>T	XP_006717122.1:p.Ser705=
XM_006717060.2:c.2088C>T	XP_006717123.1:p.Ser696=
XM_011518549.1:c.2115C>T	XP_011516851.1:p.Ser705=
XM_011518550.1:c.2115C>T	XP_011516852.1:p.Ser705=
XM_011518551.1:c.2106C>T	XP_011516853.1:p.Ser702=
XM_011518552.1:c.1356C>T	XP_011516854.1:p.Ser452=
XR_242681.3:n.100+2227G>A
XM_006717059.3:c.2115C>T	XP_006717122.1:p.Ser705=
XM_006717060.3:c.2088C>T	XP_006717123.1:p.Ser696=
XM_011518551.2:c.2106C>T	XP_011516853.1:p.Ser702=
XM_024447519.1:c.2088C>T	XP_024303287.1:p.Ser696=
NM_001003722.2:c.2079C>T MANE Select	NP_001003722.1:p.Ser693=