Canonical Allele Identifier: CA375046252

Gene: GLE1

Linked Data

• MyVariant Identifiers: chr9:g.131302598G>C (hg19) ; chr9:g.128540319G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128540319G>C , CM000671.2:g.128540319G>C	GRCh38
NC_000009.11:g.131302598G>C , CM000671.1:g.131302598G>C	GRCh37
NC_000009.10:g.130342419G>C	NCBI36
NG_012073.1:g.40628G>C , LRG_484:g.40628G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1080G>C	ENSP00000507095.1:n.*1080G>C
ENST00000683288.1:c.*2008G>C	ENSP00000507477.1:n.*2008G>C
ENST00000683748.1:c.2036G>C	ENSP00000507377.1:p.Arg679Pro
ENST00000683905.1:c.*685G>C	ENSP00000506960.1:n.*685G>C
ENST00000684139.1:c.1544G>C	ENSP00000507295.1:p.Arg515Pro
ENST00000684210.1:n.1722G>C
ENST00000684314.1:c.1904G>C	ENSP00000507700.1:p.Arg635Pro
ENST00000684331.1:c.2009G>C	ENSP00000507431.1:p.Arg670Pro
ENST00000684463.1:n.647G>C
ENST00000684646.1:c.1796G>C	ENSP00000507723.1:p.Arg599Pro
ENST00000309971.9:c.2009G>C MANE Select	ENSP00000308622.5:p.Arg670Pro
ENST00000309971.8:c.2009G>C	ENSP00000308622.4:p.Arg670Pro
NM_001003722.1:c.2009G>C , LRG_484t1:c.2009G>C	NP_001003722.1:p.Arg670Pro
XM_006717059.2:c.2045G>C	XP_006717122.1:p.Arg682Pro
XM_006717060.2:c.2018G>C	XP_006717123.1:p.Arg673Pro
XM_011518549.1:c.2045G>C	XP_011516851.1:p.Arg682Pro
XM_011518550.1:c.2045G>C	XP_011516852.1:p.Arg682Pro
XM_011518551.1:c.2036G>C	XP_011516853.1:p.Arg679Pro
XM_011518552.1:c.1286G>C	XP_011516854.1:p.Arg429Pro
XR_242681.3:n.100+3060C>G
XR_428600.2:n.124+651C>G
XM_006717059.3:c.2045G>C	XP_006717122.1:p.Arg682Pro
XM_006717060.3:c.2018G>C	XP_006717123.1:p.Arg673Pro
XM_011518551.2:c.2036G>C	XP_011516853.1:p.Arg679Pro
XM_024447519.1:c.2018G>C	XP_024303287.1:p.Arg673Pro
XR_428600.3:n.126+651C>G
NM_001003722.2:c.2009G>C MANE Select	NP_001003722.1:p.Arg670Pro