Canonical Allele Identifier: CA375046439

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303440G>C (hg19) ; chr9:g.128541161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541161G>C , CM000671.2:g.128541161G>C	GRCh38
NC_000009.11:g.131303440G>C , CM000671.1:g.131303440G>C	GRCh37
NC_000009.10:g.130343261G>C	NCBI36
NG_012073.1:g.41470G>C , LRG_484:g.41470G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1159G>C	ENSP00000507095.1:n.*1159G>C
ENST00000683288.1:c.*2087G>C	ENSP00000507477.1:n.*2087G>C
ENST00000683748.1:c.2115G>C	ENSP00000507377.1:p.Trp705Cys
ENST00000683905.1:c.*764G>C	ENSP00000506960.1:n.*764G>C
ENST00000684139.1:c.1623G>C	ENSP00000507295.1:p.Trp541Cys
ENST00000684210.1:n.1801G>C
ENST00000684314.1:c.1983G>C	ENSP00000507700.1:p.Trp661Cys
ENST00000684331.1:c.*808G>C	ENSP00000507431.1:n.*808G>C
ENST00000684463.1:n.726G>C
ENST00000684646.1:c.1875G>C	ENSP00000507723.1:p.Trp625Cys
ENST00000309971.9:c.2088G>C MANE Select	ENSP00000308622.5:p.Trp696Cys
ENST00000309971.8:c.2088G>C	ENSP00000308622.4:p.Trp696Cys
NM_001003722.1:c.2088G>C , LRG_484t1:c.2088G>C	NP_001003722.1:p.Trp696Cys
XM_006717059.2:c.2124G>C	XP_006717122.1:p.Trp708Cys
XM_006717060.2:c.2097G>C	XP_006717123.1:p.Trp699Cys
XM_011518549.1:c.2124G>C	XP_011516851.1:p.Trp708Cys
XM_011518550.1:c.2124G>C	XP_011516852.1:p.Trp708Cys
XM_011518551.1:c.2115G>C	XP_011516853.1:p.Trp705Cys
XM_011518552.1:c.1365G>C	XP_011516854.1:p.Trp455Cys
XR_242681.3:n.100+2218C>G
XM_006717059.3:c.2124G>C	XP_006717122.1:p.Trp708Cys
XM_006717060.3:c.2097G>C	XP_006717123.1:p.Trp699Cys
XM_011518551.2:c.2115G>C	XP_011516853.1:p.Trp705Cys
XM_024447519.1:c.2097G>C	XP_024303287.1:p.Trp699Cys
NM_001003722.2:c.2088G>C MANE Select	NP_001003722.1:p.Trp696Cys