Canonical Allele Identifier: CA375046389

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303416G>C (hg19) ; chr9:g.128541137G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541137G>C , CM000671.2:g.128541137G>C	GRCh38
NC_000009.11:g.131303416G>C , CM000671.1:g.131303416G>C	GRCh37
NC_000009.10:g.130343237G>C	NCBI36
NG_012073.1:g.41446G>C , LRG_484:g.41446G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1135G>C	ENSP00000507095.1:n.*1135G>C
ENST00000683288.1:c.*2063G>C	ENSP00000507477.1:n.*2063G>C
ENST00000683748.1:c.2091G>C	ENSP00000507377.1:p.Lys697Asn
ENST00000683905.1:c.*740G>C	ENSP00000506960.1:n.*740G>C
ENST00000684139.1:c.1599G>C	ENSP00000507295.1:p.Lys533Asn
ENST00000684210.1:n.1777G>C
ENST00000684314.1:c.1959G>C	ENSP00000507700.1:p.Lys653Asn
ENST00000684331.1:c.*784G>C	ENSP00000507431.1:n.*784G>C
ENST00000684463.1:n.702G>C
ENST00000684646.1:c.1851G>C	ENSP00000507723.1:p.Lys617Asn
ENST00000309971.9:c.2064G>C MANE Select	ENSP00000308622.5:p.Lys688Asn
ENST00000309971.8:c.2064G>C	ENSP00000308622.4:p.Lys688Asn
NM_001003722.1:c.2064G>C , LRG_484t1:c.2064G>C	NP_001003722.1:p.Lys688Asn
XM_006717059.2:c.2100G>C	XP_006717122.1:p.Lys700Asn
XM_006717060.2:c.2073G>C	XP_006717123.1:p.Lys691Asn
XM_011518549.1:c.2100G>C	XP_011516851.1:p.Lys700Asn
XM_011518550.1:c.2100G>C	XP_011516852.1:p.Lys700Asn
XM_011518551.1:c.2091G>C	XP_011516853.1:p.Lys697Asn
XM_011518552.1:c.1341G>C	XP_011516854.1:p.Lys447Asn
XR_242681.3:n.100+2242C>G
XM_006717059.3:c.2100G>C	XP_006717122.1:p.Lys700Asn
XM_006717060.3:c.2073G>C	XP_006717123.1:p.Lys691Asn
XM_011518551.2:c.2091G>C	XP_011516853.1:p.Lys697Asn
XM_024447519.1:c.2073G>C	XP_024303287.1:p.Lys691Asn
NM_001003722.2:c.2064G>C MANE Select	NP_001003722.1:p.Lys688Asn