Canonical Allele Identifier: CA467288322

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131303219G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540940G>C , CM000671.2:g.128540940G>C	GRCh38
NC_000009.11:g.131303219G>C , CM000671.1:g.131303219G>C	GRCh37
NC_000009.10:g.130343040G>C	NCBI36
NG_012073.1:g.41249G>C , LRG_484:g.41249G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1100-162G>C	ENSP00000507095.1:n.*1100-162G>C
ENST00000683288.1:c.*2028-162G>C	ENSP00000507477.1:n.*2028-162G>C
ENST00000683748.1:c.2056-162G>C	ENSP00000507377.1:n.2056-162G>C
ENST00000683905.1:c.*705-162G>C	ENSP00000506960.1:n.*705-162G>C
ENST00000684139.1:c.1564-162G>C	ENSP00000507295.1:n.1564-162G>C
ENST00000684210.1:n.1742-162G>C
ENST00000684314.1:c.1924-162G>C	ENSP00000507700.1:n.1924-162G>C
ENST00000684331.1:c.*587G>C	ENSP00000507431.1:n.*587G>C
ENST00000684463.1:n.667-162G>C
ENST00000684646.1:c.1816-162G>C	ENSP00000507723.1:n.1816-162G>C
ENST00000309971.9:c.2029-162G>C MANE Select	ENSP00000308622.5:n.2029-162G>C
ENST00000309971.8:c.2029-162G>C	ENSP00000308622.4:n.2029-162G>C
NM_001003722.1:c.2029-162G>C , LRG_484t1:c.2029-162G>C	NP_001003722.1:n.2029-162G>C
XM_006717059.2:c.2065-162G>C	XP_006717122.1:n.2065-162G>C
XM_006717060.2:c.2038-162G>C	XP_006717123.1:n.2038-162G>C
XM_011518549.1:c.2065-162G>C	XP_011516851.1:n.2065-162G>C
XM_011518550.1:c.2065-162G>C	XP_011516852.1:n.2065-162G>C
XM_011518551.1:c.2056-162G>C	XP_011516853.1:n.2056-162G>C
XM_011518552.1:c.1306-162G>C	XP_011516854.1:n.1306-162G>C
XR_242681.3:n.100+2439C>G
XR_428600.2:n.124+30C>G
XM_006717059.3:c.2065-162G>C	XP_006717122.1:n.2065-162G>C
XM_006717060.3:c.2038-162G>C	XP_006717123.1:n.2038-162G>C
XM_011518551.2:c.2056-162G>C	XP_011516853.1:n.2056-162G>C
XM_024447519.1:c.2038-162G>C	XP_024303287.1:n.2038-162G>C
XR_428600.3:n.126+30C>G
NM_001003722.2:c.2029-162G>C MANE Select	NP_001003722.1:n.2029-162G>C