Canonical Allele Identifier: CA375046373

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303408G>C (hg19) ; chr9:g.128541129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541129G>C , CM000671.2:g.128541129G>C	GRCh38
NC_000009.11:g.131303408G>C , CM000671.1:g.131303408G>C	GRCh37
NC_000009.10:g.130343229G>C	NCBI36
NG_012073.1:g.41438G>C , LRG_484:g.41438G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1127G>C	ENSP00000507095.1:n.*1127G>C
ENST00000683288.1:c.*2055G>C	ENSP00000507477.1:n.*2055G>C
ENST00000683748.1:c.2083G>C	ENSP00000507377.1:p.Val695Leu
ENST00000683905.1:c.*732G>C	ENSP00000506960.1:n.*732G>C
ENST00000684139.1:c.1591G>C	ENSP00000507295.1:p.Val531Leu
ENST00000684210.1:n.1769G>C
ENST00000684314.1:c.1951G>C	ENSP00000507700.1:p.Val651Leu
ENST00000684331.1:c.*776G>C	ENSP00000507431.1:n.*776G>C
ENST00000684463.1:n.694G>C
ENST00000684646.1:c.1843G>C	ENSP00000507723.1:p.Val615Leu
ENST00000309971.9:c.2056G>C MANE Select	ENSP00000308622.5:p.Val686Leu
ENST00000309971.8:c.2056G>C	ENSP00000308622.4:p.Val686Leu
NM_001003722.1:c.2056G>C , LRG_484t1:c.2056G>C	NP_001003722.1:p.Val686Leu
XM_006717059.2:c.2092G>C	XP_006717122.1:p.Val698Leu
XM_006717060.2:c.2065G>C	XP_006717123.1:p.Val689Leu
XM_011518549.1:c.2092G>C	XP_011516851.1:p.Val698Leu
XM_011518550.1:c.2092G>C	XP_011516852.1:p.Val698Leu
XM_011518551.1:c.2083G>C	XP_011516853.1:p.Val695Leu
XM_011518552.1:c.1333G>C	XP_011516854.1:p.Val445Leu
XR_242681.3:n.100+2250C>G
XM_006717059.3:c.2092G>C	XP_006717122.1:p.Val698Leu
XM_006717060.3:c.2065G>C	XP_006717123.1:p.Val689Leu
XM_011518551.2:c.2083G>C	XP_011516853.1:p.Val695Leu
XM_024447519.1:c.2065G>C	XP_024303287.1:p.Val689Leu
NM_001003722.2:c.2056G>C MANE Select	NP_001003722.1:p.Val686Leu