Canonical Allele Identifier: CA200395435

Gene: GLE1

Linked Data

• dbSNP Id: rs999085332
• gnomAD v3: 9-128541126-C-T
• gnomAD v4: 9-128541126-C-T
• MyVariant Identifiers: chr9:g.131303405C>T (hg19) ; chr9:g.128541126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541126C>T , CM000671.2:g.128541126C>T	GRCh38
NC_000009.11:g.131303405C>T , CM000671.1:g.131303405C>T	GRCh37
NC_000009.10:g.130343226C>T	NCBI36
NG_012073.1:g.41435C>T , LRG_484:g.41435C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1124C>T	ENSP00000507095.1:n.*1124C>T
ENST00000683288.1:c.*2052C>T	ENSP00000507477.1:n.*2052C>T
ENST00000683748.1:c.2080C>T	ENSP00000507377.1:p.Pro694Ser
ENST00000683905.1:c.*729C>T	ENSP00000506960.1:n.*729C>T
ENST00000684139.1:c.1588C>T	ENSP00000507295.1:p.Pro530Ser
ENST00000684210.1:n.1766C>T
ENST00000684314.1:c.1948C>T	ENSP00000507700.1:p.Pro650Ser
ENST00000684331.1:c.*773C>T	ENSP00000507431.1:n.*773C>T
ENST00000684463.1:n.691C>T
ENST00000684646.1:c.1840C>T	ENSP00000507723.1:p.Pro614Ser
ENST00000309971.9:c.2053C>T MANE Select	ENSP00000308622.5:p.Pro685Ser
ENST00000309971.8:c.2053C>T	ENSP00000308622.4:p.Pro685Ser
NM_001003722.1:c.2053C>T , LRG_484t1:c.2053C>T	NP_001003722.1:p.Pro685Ser
XM_006717059.2:c.2089C>T	XP_006717122.1:p.Pro697Ser
XM_006717060.2:c.2062C>T	XP_006717123.1:p.Pro688Ser
XM_011518549.1:c.2089C>T	XP_011516851.1:p.Pro697Ser
XM_011518550.1:c.2089C>T	XP_011516852.1:p.Pro697Ser
XM_011518551.1:c.2080C>T	XP_011516853.1:p.Pro694Ser
XM_011518552.1:c.1330C>T	XP_011516854.1:p.Pro444Ser
XR_242681.3:n.100+2253G>A
XM_006717059.3:c.2089C>T	XP_006717122.1:p.Pro697Ser
XM_006717060.3:c.2062C>T	XP_006717123.1:p.Pro688Ser
XM_011518551.2:c.2080C>T	XP_011516853.1:p.Pro694Ser
XM_024447519.1:c.2062C>T	XP_024303287.1:p.Pro688Ser
NM_001003722.2:c.2053C>T MANE Select	NP_001003722.1:p.Pro685Ser