Canonical Allele Identifier: CA375046377

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303409T>C (hg19) ; chr9:g.128541130T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541130T>C , CM000671.2:g.128541130T>C	GRCh38
NC_000009.11:g.131303409T>C , CM000671.1:g.131303409T>C	GRCh37
NC_000009.10:g.130343230T>C	NCBI36
NG_012073.1:g.41439T>C , LRG_484:g.41439T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1128T>C	ENSP00000507095.1:n.*1128T>C
ENST00000683288.1:c.*2056T>C	ENSP00000507477.1:n.*2056T>C
ENST00000683748.1:c.2084T>C	ENSP00000507377.1:p.Val695Ala
ENST00000683905.1:c.*733T>C	ENSP00000506960.1:n.*733T>C
ENST00000684139.1:c.1592T>C	ENSP00000507295.1:p.Val531Ala
ENST00000684210.1:n.1770T>C
ENST00000684314.1:c.1952T>C	ENSP00000507700.1:p.Val651Ala
ENST00000684331.1:c.*777T>C	ENSP00000507431.1:n.*777T>C
ENST00000684463.1:n.695T>C
ENST00000684646.1:c.1844T>C	ENSP00000507723.1:p.Val615Ala
ENST00000309971.9:c.2057T>C MANE Select	ENSP00000308622.5:p.Val686Ala
ENST00000309971.8:c.2057T>C	ENSP00000308622.4:p.Val686Ala
NM_001003722.1:c.2057T>C , LRG_484t1:c.2057T>C	NP_001003722.1:p.Val686Ala
XM_006717059.2:c.2093T>C	XP_006717122.1:p.Val698Ala
XM_006717060.2:c.2066T>C	XP_006717123.1:p.Val689Ala
XM_011518549.1:c.2093T>C	XP_011516851.1:p.Val698Ala
XM_011518550.1:c.2093T>C	XP_011516852.1:p.Val698Ala
XM_011518551.1:c.2084T>C	XP_011516853.1:p.Val695Ala
XM_011518552.1:c.1334T>C	XP_011516854.1:p.Val445Ala
XR_242681.3:n.100+2249A>G
XM_006717059.3:c.2093T>C	XP_006717122.1:p.Val698Ala
XM_006717060.3:c.2066T>C	XP_006717123.1:p.Val689Ala
XM_011518551.2:c.2084T>C	XP_011516853.1:p.Val695Ala
XM_024447519.1:c.2066T>C	XP_024303287.1:p.Val689Ala
NM_001003722.2:c.2057T>C MANE Select	NP_001003722.1:p.Val686Ala