Canonical Allele Identifier: CA375046370

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303406C>G (hg19) ; chr9:g.128541127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541127C>G , CM000671.2:g.128541127C>G	GRCh38
NC_000009.11:g.131303406C>G , CM000671.1:g.131303406C>G	GRCh37
NC_000009.10:g.130343227C>G	NCBI36
NG_012073.1:g.41436C>G , LRG_484:g.41436C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1125C>G	ENSP00000507095.1:n.*1125C>G
ENST00000683288.1:c.*2053C>G	ENSP00000507477.1:n.*2053C>G
ENST00000683748.1:c.2081C>G	ENSP00000507377.1:p.Pro694Arg
ENST00000683905.1:c.*730C>G	ENSP00000506960.1:n.*730C>G
ENST00000684139.1:c.1589C>G	ENSP00000507295.1:p.Pro530Arg
ENST00000684210.1:n.1767C>G
ENST00000684314.1:c.1949C>G	ENSP00000507700.1:p.Pro650Arg
ENST00000684331.1:c.*774C>G	ENSP00000507431.1:n.*774C>G
ENST00000684463.1:n.692C>G
ENST00000684646.1:c.1841C>G	ENSP00000507723.1:p.Pro614Arg
ENST00000309971.9:c.2054C>G MANE Select	ENSP00000308622.5:p.Pro685Arg
ENST00000309971.8:c.2054C>G	ENSP00000308622.4:p.Pro685Arg
NM_001003722.1:c.2054C>G , LRG_484t1:c.2054C>G	NP_001003722.1:p.Pro685Arg
XM_006717059.2:c.2090C>G	XP_006717122.1:p.Pro697Arg
XM_006717060.2:c.2063C>G	XP_006717123.1:p.Pro688Arg
XM_011518549.1:c.2090C>G	XP_011516851.1:p.Pro697Arg
XM_011518550.1:c.2090C>G	XP_011516852.1:p.Pro697Arg
XM_011518551.1:c.2081C>G	XP_011516853.1:p.Pro694Arg
XM_011518552.1:c.1331C>G	XP_011516854.1:p.Pro444Arg
XR_242681.3:n.100+2252G>C
XM_006717059.3:c.2090C>G	XP_006717122.1:p.Pro697Arg
XM_006717060.3:c.2063C>G	XP_006717123.1:p.Pro688Arg
XM_011518551.2:c.2081C>G	XP_011516853.1:p.Pro694Arg
XM_024447519.1:c.2063C>G	XP_024303287.1:p.Pro688Arg
NM_001003722.2:c.2054C>G MANE Select	NP_001003722.1:p.Pro685Arg