Canonical Allele Identifier: CA7270906

Gene: AREL1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74683404C>T , CM000676.2:g.74683404C>T	GRCh38
NC_000014.8:g.75150107C>T , CM000676.1:g.75150107C>T	GRCh37
NC_000014.7:g.74219860C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356357.9:c.373G>A MANE Select	ENSP00000348714.4:p.Val125Ile
ENST00000680030.1:n.1053G>A
ENST00000681099.1:c.343G>A	ENSP00000504887.1:p.Val115Ile
ENST00000681535.1:c.373G>A	ENSP00000506125.1:p.Val125Ile
ENST00000681599.1:c.373G>A	ENSP00000505623.1:p.Val125Ile
ENST00000356357.8:c.373G>A	ENSP00000348714.4:p.Val125Ile
ENST00000469797.5:n.841G>A
ENST00000553279.5:c.243+1050G>A	ENSP00000452456.1:n.243+1050G>A
ENST00000555249.1:c.373G>A	ENSP00000450458.1:p.Val125Ile
ENST00000555330.5:c.373G>A	ENSP00000450557.1:p.Val125Ile
ENST00000556202.5:c.-111G>A	ENSP00000452101.1:n.-111G>A
ENST00000556589.5:n.738G>A
ENST00000557401.5:n.882G>A
NM_001039479.1:c.373G>A	NP_001034568.1:p.Val125Ile
XM_005268244.2:c.-111G>A	XP_005268301.1:n.-111G>A
XM_006720344.1:c.343G>A	XP_006720407.1:p.Val115Ile
XM_011537415.1:c.373G>A	XP_011535717.1:p.Val125Ile
XM_011537416.1:c.373G>A	XP_011535718.1:p.Val125Ile
XM_011537417.1:c.-111G>A	XP_011535719.1:n.-111G>A
XM_011537418.1:c.373G>A	XP_011535720.1:p.Val125Ile
XM_005268244.3:c.-111G>A	XP_005268301.1:n.-111G>A
XM_006720344.3:c.343G>A	XP_006720407.1:p.Val115Ile
XM_011537415.2:c.373G>A	XP_011535717.1:p.Val125Ile
XM_011537416.3:c.373G>A	XP_011535718.1:p.Val125Ile
XM_011537417.2:c.-111G>A	XP_011535719.1:n.-111G>A
XR_001750615.2:n.874G>A
NM_001039479.2:c.373G>A MANE Select	NP_001034568.1:p.Val125Ile