Canonical Allele Identifier: CA375046216

Gene: GLE1

Linked Data

• gnomAD v4: 9-128540303-A-C
• MyVariant Identifiers: chr9:g.131302582A>C (hg19) ; chr9:g.128540303A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540303A>C , CM000671.2:g.128540303A>C	GRCh38
NC_000009.11:g.131302582A>C , CM000671.1:g.131302582A>C	GRCh37
NC_000009.10:g.130342403A>C	NCBI36
NG_012073.1:g.40612A>C , LRG_484:g.40612A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1064A>C	ENSP00000507095.1:n.*1064A>C
ENST00000683288.1:c.*1992A>C	ENSP00000507477.1:n.*1992A>C
ENST00000683748.1:c.2020A>C	ENSP00000507377.1:p.Met674Leu
ENST00000683905.1:c.*669A>C	ENSP00000506960.1:n.*669A>C
ENST00000684139.1:c.1528A>C	ENSP00000507295.1:p.Met510Leu
ENST00000684210.1:n.1706A>C
ENST00000684314.1:c.1888A>C	ENSP00000507700.1:p.Met630Leu
ENST00000684331.1:c.1993A>C	ENSP00000507431.1:p.Met665Leu
ENST00000684463.1:n.631A>C
ENST00000684646.1:c.1780A>C	ENSP00000507723.1:p.Met594Leu
ENST00000309971.9:c.1993A>C MANE Select	ENSP00000308622.5:p.Met665Leu
ENST00000309971.8:c.1993A>C	ENSP00000308622.4:p.Met665Leu
NM_001003722.1:c.1993A>C , LRG_484t1:c.1993A>C	NP_001003722.1:p.Met665Leu
XM_006717059.2:c.2029A>C	XP_006717122.1:p.Met677Leu
XM_006717060.2:c.2002A>C	XP_006717123.1:p.Met668Leu
XM_011518549.1:c.2029A>C	XP_011516851.1:p.Met677Leu
XM_011518550.1:c.2029A>C	XP_011516852.1:p.Met677Leu
XM_011518551.1:c.2020A>C	XP_011516853.1:p.Met674Leu
XM_011518552.1:c.1270A>C	XP_011516854.1:p.Met424Leu
XR_242681.3:n.100+3076T>G
XR_428600.2:n.124+667T>G
XM_006717059.3:c.2029A>C	XP_006717122.1:p.Met677Leu
XM_006717060.3:c.2002A>C	XP_006717123.1:p.Met668Leu
XM_011518551.2:c.2020A>C	XP_011516853.1:p.Met674Leu
XM_024447519.1:c.2002A>C	XP_024303287.1:p.Met668Leu
XR_428600.3:n.126+667T>G
NM_001003722.2:c.1993A>C MANE Select	NP_001003722.1:p.Met665Leu