Canonical Allele Identifier: CA375046368

Gene: GLE1

Linked Data

• gnomAD v4: 9-128541126-C-G
• MyVariant Identifiers: chr9:g.131303405C>G (hg19) ; chr9:g.128541126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128541126C>G , CM000671.2:g.128541126C>G	GRCh38
NC_000009.11:g.131303405C>G , CM000671.1:g.131303405C>G	GRCh37
NC_000009.10:g.130343226C>G	NCBI36
NG_012073.1:g.41435C>G , LRG_484:g.41435C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000683044.1:c.*1124C>G	ENSP00000507095.1:n.*1124C>G
ENST00000683288.1:c.*2052C>G	ENSP00000507477.1:n.*2052C>G
ENST00000683748.1:c.2080C>G	ENSP00000507377.1:p.Pro694Ala
ENST00000683905.1:c.*729C>G	ENSP00000506960.1:n.*729C>G
ENST00000684139.1:c.1588C>G	ENSP00000507295.1:p.Pro530Ala
ENST00000684210.1:n.1766C>G
ENST00000684314.1:c.1948C>G	ENSP00000507700.1:p.Pro650Ala
ENST00000684331.1:c.*773C>G	ENSP00000507431.1:n.*773C>G
ENST00000684463.1:n.691C>G
ENST00000684646.1:c.1840C>G	ENSP00000507723.1:p.Pro614Ala
ENST00000309971.9:c.2053C>G MANE Select	ENSP00000308622.5:p.Pro685Ala
ENST00000309971.8:c.2053C>G	ENSP00000308622.4:p.Pro685Ala
NM_001003722.1:c.2053C>G , LRG_484t1:c.2053C>G	NP_001003722.1:p.Pro685Ala
XM_006717059.2:c.2089C>G	XP_006717122.1:p.Pro697Ala
XM_006717060.2:c.2062C>G	XP_006717123.1:p.Pro688Ala
XM_011518549.1:c.2089C>G	XP_011516851.1:p.Pro697Ala
XM_011518550.1:c.2089C>G	XP_011516852.1:p.Pro697Ala
XM_011518551.1:c.2080C>G	XP_011516853.1:p.Pro694Ala
XM_011518552.1:c.1330C>G	XP_011516854.1:p.Pro444Ala
XR_242681.3:n.100+2253G>C
XM_006717059.3:c.2089C>G	XP_006717122.1:p.Pro697Ala
XM_006717060.3:c.2062C>G	XP_006717123.1:p.Pro688Ala
XM_011518551.2:c.2080C>G	XP_011516853.1:p.Pro694Ala
XM_024447519.1:c.2062C>G	XP_024303287.1:p.Pro688Ala
NM_001003722.2:c.2053C>G MANE Select	NP_001003722.1:p.Pro685Ala