Canonical Allele Identifier: CA375046327

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541109-T-C
• MyVariant Identifiers: chr9:g.131303388T>C (hg19) ; chr9:g.128541109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541109T>C , CM000671.2:g.128541109T>C	GRCh38
NC_000009.11:g.131303388T>C , CM000671.1:g.131303388T>C	GRCh37
NC_000009.10:g.130343209T>C	NCBI36
NG_012073.1:g.41418T>C , LRG_484:g.41418T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683044.1:c.*1107T>C	ENSP00000507095.1:n.*1107T>C
ENST00000683288.1:c.*2035T>C	ENSP00000507477.1:n.*2035T>C
ENST00000683748.1:c.2063T>C	ENSP00000507377.1:p.Leu688Ser
ENST00000683905.1:c.*712T>C	ENSP00000506960.1:n.*712T>C
ENST00000684139.1:c.1571T>C	ENSP00000507295.1:p.Leu524Ser
ENST00000684210.1:n.1749T>C
ENST00000684314.1:c.1931T>C	ENSP00000507700.1:p.Leu644Ser
ENST00000684331.1:c.*756T>C	ENSP00000507431.1:n.*756T>C
ENST00000684463.1:n.674T>C
ENST00000684646.1:c.1823T>C	ENSP00000507723.1:p.Leu608Ser
ENST00000309971.9:c.2036T>C MANE Select	ENSP00000308622.5:p.Leu679Ser
ENST00000309971.8:c.2036T>C	ENSP00000308622.4:p.Leu679Ser
NM_001003722.1:c.2036T>C , LRG_484t1:c.2036T>C	NP_001003722.1:p.Leu679Ser
XM_006717059.2:c.2072T>C	XP_006717122.1:p.Leu691Ser
XM_006717060.2:c.2045T>C	XP_006717123.1:p.Leu682Ser
XM_011518549.1:c.2072T>C	XP_011516851.1:p.Leu691Ser
XM_011518550.1:c.2072T>C	XP_011516852.1:p.Leu691Ser
XM_011518551.1:c.2063T>C	XP_011516853.1:p.Leu688Ser
XM_011518552.1:c.1313T>C	XP_011516854.1:p.Leu438Ser
XR_242681.3:n.100+2270A>G
XM_006717059.3:c.2072T>C	XP_006717122.1:p.Leu691Ser
XM_006717060.3:c.2045T>C	XP_006717123.1:p.Leu682Ser
XM_011518551.2:c.2063T>C	XP_011516853.1:p.Leu688Ser
XM_024447519.1:c.2045T>C	XP_024303287.1:p.Leu682Ser
NM_001003722.2:c.2036T>C MANE Select	NP_001003722.1:p.Leu679Ser