Canonical Allele Identifier: CA375046288

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302614G>C (hg19) ; chr9:g.128540335G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540335G>C , CM000671.2:g.128540335G>C	GRCh38
NC_000009.11:g.131302614G>C , CM000671.1:g.131302614G>C	GRCh37
NC_000009.10:g.130342435G>C	NCBI36
NG_012073.1:g.40644G>C , LRG_484:g.40644G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1096G>C	ENSP00000507095.1:n.*1096G>C
ENST00000683288.1:c.*2024G>C	ENSP00000507477.1:n.*2024G>C
ENST00000683748.1:c.2052G>C	ENSP00000507377.1:p.Leu684Phe
ENST00000683905.1:c.*701G>C	ENSP00000506960.1:n.*701G>C
ENST00000684139.1:c.1560G>C	ENSP00000507295.1:p.Leu520Phe
ENST00000684210.1:n.1738G>C
ENST00000684314.1:c.1920G>C	ENSP00000507700.1:p.Leu640Phe
ENST00000684331.1:c.2025G>C	ENSP00000507431.1:p.Leu675Phe
ENST00000684463.1:n.663G>C
ENST00000684646.1:c.1812G>C	ENSP00000507723.1:p.Leu604Phe
ENST00000309971.9:c.2025G>C MANE Select	ENSP00000308622.5:p.Leu675Phe
ENST00000309971.8:c.2025G>C	ENSP00000308622.4:p.Leu675Phe
NM_001003722.1:c.2025G>C , LRG_484t1:c.2025G>C	NP_001003722.1:p.Leu675Phe
XM_006717059.2:c.2061G>C	XP_006717122.1:p.Leu687Phe
XM_006717060.2:c.2034G>C	XP_006717123.1:p.Leu678Phe
XM_011518549.1:c.2061G>C	XP_011516851.1:p.Leu687Phe
XM_011518550.1:c.2061G>C	XP_011516852.1:p.Leu687Phe
XM_011518551.1:c.2052G>C	XP_011516853.1:p.Leu684Phe
XM_011518552.1:c.1302G>C	XP_011516854.1:p.Leu434Phe
XR_242681.3:n.100+3044C>G
XR_428600.2:n.124+635C>G
XM_006717059.3:c.2061G>C	XP_006717122.1:p.Leu687Phe
XM_006717060.3:c.2034G>C	XP_006717123.1:p.Leu678Phe
XM_011518551.2:c.2052G>C	XP_011516853.1:p.Leu684Phe
XM_024447519.1:c.2034G>C	XP_024303287.1:p.Leu678Phe
XR_428600.3:n.126+635C>G
NM_001003722.2:c.2025G>C MANE Select	NP_001003722.1:p.Leu675Phe