Canonical Allele Identifier: CA375046276

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302609T>C (hg19) ; chr9:g.128540330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540330T>C , CM000671.2:g.128540330T>C	GRCh38
NC_000009.11:g.131302609T>C , CM000671.1:g.131302609T>C	GRCh37
NC_000009.10:g.130342430T>C	NCBI36
NG_012073.1:g.40639T>C , LRG_484:g.40639T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1091T>C	ENSP00000507095.1:n.*1091T>C
ENST00000683288.1:c.*2019T>C	ENSP00000507477.1:n.*2019T>C
ENST00000683748.1:c.2047T>C	ENSP00000507377.1:p.Phe683Leu
ENST00000683905.1:c.*696T>C	ENSP00000506960.1:n.*696T>C
ENST00000684139.1:c.1555T>C	ENSP00000507295.1:p.Phe519Leu
ENST00000684210.1:n.1733T>C
ENST00000684314.1:c.1915T>C	ENSP00000507700.1:p.Phe639Leu
ENST00000684331.1:c.2020T>C	ENSP00000507431.1:p.Phe674Leu
ENST00000684463.1:n.658T>C
ENST00000684646.1:c.1807T>C	ENSP00000507723.1:p.Phe603Leu
ENST00000309971.9:c.2020T>C MANE Select	ENSP00000308622.5:p.Phe674Leu
ENST00000309971.8:c.2020T>C	ENSP00000308622.4:p.Phe674Leu
NM_001003722.1:c.2020T>C , LRG_484t1:c.2020T>C	NP_001003722.1:p.Phe674Leu
XM_006717059.2:c.2056T>C	XP_006717122.1:p.Phe686Leu
XM_006717060.2:c.2029T>C	XP_006717123.1:p.Phe677Leu
XM_011518549.1:c.2056T>C	XP_011516851.1:p.Phe686Leu
XM_011518550.1:c.2056T>C	XP_011516852.1:p.Phe686Leu
XM_011518551.1:c.2047T>C	XP_011516853.1:p.Phe683Leu
XM_011518552.1:c.1297T>C	XP_011516854.1:p.Phe433Leu
XR_242681.3:n.100+3049A>G
XR_428600.2:n.124+640A>G
XM_006717059.3:c.2056T>C	XP_006717122.1:p.Phe686Leu
XM_006717060.3:c.2029T>C	XP_006717123.1:p.Phe677Leu
XM_011518551.2:c.2047T>C	XP_011516853.1:p.Phe683Leu
XM_024447519.1:c.2029T>C	XP_024303287.1:p.Phe677Leu
XR_428600.3:n.126+640A>G
NM_001003722.2:c.2020T>C MANE Select	NP_001003722.1:p.Phe674Leu