Canonical Allele Identifier: CA375046434

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541159-T-C
• MyVariant Identifiers: chr9:g.131303438T>C (hg19) ; chr9:g.128541159T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541159T>C , CM000671.2:g.128541159T>C	GRCh38
NC_000009.11:g.131303438T>C , CM000671.1:g.131303438T>C	GRCh37
NC_000009.10:g.130343259T>C	NCBI36
NG_012073.1:g.41468T>C , LRG_484:g.41468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1157T>C	ENSP00000507095.1:n.*1157T>C
ENST00000683288.1:c.*2085T>C	ENSP00000507477.1:n.*2085T>C
ENST00000683748.1:c.2113T>C	ENSP00000507377.1:p.Trp705Arg
ENST00000683905.1:c.*762T>C	ENSP00000506960.1:n.*762T>C
ENST00000684139.1:c.1621T>C	ENSP00000507295.1:p.Trp541Arg
ENST00000684210.1:n.1799T>C
ENST00000684314.1:c.1981T>C	ENSP00000507700.1:p.Trp661Arg
ENST00000684331.1:c.*806T>C	ENSP00000507431.1:n.*806T>C
ENST00000684463.1:n.724T>C
ENST00000684646.1:c.1873T>C	ENSP00000507723.1:p.Trp625Arg
ENST00000309971.9:c.2086T>C MANE Select	ENSP00000308622.5:p.Trp696Arg
ENST00000309971.8:c.2086T>C	ENSP00000308622.4:p.Trp696Arg
NM_001003722.1:c.2086T>C , LRG_484t1:c.2086T>C	NP_001003722.1:p.Trp696Arg
XM_006717059.2:c.2122T>C	XP_006717122.1:p.Trp708Arg
XM_006717060.2:c.2095T>C	XP_006717123.1:p.Trp699Arg
XM_011518549.1:c.2122T>C	XP_011516851.1:p.Trp708Arg
XM_011518550.1:c.2122T>C	XP_011516852.1:p.Trp708Arg
XM_011518551.1:c.2113T>C	XP_011516853.1:p.Trp705Arg
XM_011518552.1:c.1363T>C	XP_011516854.1:p.Trp455Arg
XR_242681.3:n.100+2220A>G
XM_006717059.3:c.2122T>C	XP_006717122.1:p.Trp708Arg
XM_006717060.3:c.2095T>C	XP_006717123.1:p.Trp699Arg
XM_011518551.2:c.2113T>C	XP_011516853.1:p.Trp705Arg
XM_024447519.1:c.2095T>C	XP_024303287.1:p.Trp699Arg
NM_001003722.2:c.2086T>C MANE Select	NP_001003722.1:p.Trp696Arg