Canonical Allele Identifier: CA375046329

Gene: GLE1

Linked Data

• dbSNP Id: rs1314594885
• MyVariant Identifiers: chr9:g.131303389G>C (hg19) ; chr9:g.128541110G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541110G>C , CM000671.2:g.128541110G>C	GRCh38
NC_000009.11:g.131303389G>C , CM000671.1:g.131303389G>C	GRCh37
NC_000009.10:g.130343210G>C	NCBI36
NG_012073.1:g.41419G>C , LRG_484:g.41419G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1108G>C	ENSP00000507095.1:n.*1108G>C
ENST00000683288.1:c.*2036G>C	ENSP00000507477.1:n.*2036G>C
ENST00000683748.1:c.2064G>C	ENSP00000507377.1:p.Leu688Phe
ENST00000683905.1:c.*713G>C	ENSP00000506960.1:n.*713G>C
ENST00000684139.1:c.1572G>C	ENSP00000507295.1:p.Leu524Phe
ENST00000684210.1:n.1750G>C
ENST00000684314.1:c.1932G>C	ENSP00000507700.1:p.Leu644Phe
ENST00000684331.1:c.*757G>C	ENSP00000507431.1:n.*757G>C
ENST00000684463.1:n.675G>C
ENST00000684646.1:c.1824G>C	ENSP00000507723.1:p.Leu608Phe
ENST00000309971.9:c.2037G>C MANE Select	ENSP00000308622.5:p.Leu679Phe
ENST00000309971.8:c.2037G>C	ENSP00000308622.4:p.Leu679Phe
NM_001003722.1:c.2037G>C , LRG_484t1:c.2037G>C	NP_001003722.1:p.Leu679Phe
XM_006717059.2:c.2073G>C	XP_006717122.1:p.Leu691Phe
XM_006717060.2:c.2046G>C	XP_006717123.1:p.Leu682Phe
XM_011518549.1:c.2073G>C	XP_011516851.1:p.Leu691Phe
XM_011518550.1:c.2073G>C	XP_011516852.1:p.Leu691Phe
XM_011518551.1:c.2064G>C	XP_011516853.1:p.Leu688Phe
XM_011518552.1:c.1314G>C	XP_011516854.1:p.Leu438Phe
XR_242681.3:n.100+2269C>G
XM_006717059.3:c.2073G>C	XP_006717122.1:p.Leu691Phe
XM_006717060.3:c.2046G>C	XP_006717123.1:p.Leu682Phe
XM_011518551.2:c.2064G>C	XP_011516853.1:p.Leu688Phe
XM_024447519.1:c.2046G>C	XP_024303287.1:p.Leu682Phe
NM_001003722.2:c.2037G>C MANE Select	NP_001003722.1:p.Leu679Phe