Canonical Allele Identifier: CA233267

Gene: ATL1

Linked Data

• ClinVar Variation Id: 157549
• ClinVar RCV Id: RCV000144894 ; RCV000281684 ; RCV002514782
• dbSNP Id: rs606231265
• gnomAD v2: 14-51057729-G-A
• gnomAD v4: 14-50591011-G-A
• MyVariant Identifiers: chr14:g.51057729G>A (hg19) ; chr14:g.50591011G>A (hg38)
• PubMed: PMID:24473461

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50591011G>A , CM000676.2:g.50591011G>A	GRCh38
NC_000014.8:g.51057729G>A , CM000676.1:g.51057729G>A	GRCh37
NC_000014.7:g.50127479G>A	NCBI36
NG_009028.1:g.62930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.353G>A	ENSP00000450989.2:p.Arg118Gln
ENST00000553746.2:n.2311G>A
ENST00000556478.3:c.353G>A	ENSP00000501428.2:p.Arg118Gln
ENST00000682037.1:c.353G>A	ENSP00000508289.1:p.Arg118Gln
ENST00000682219.1:n.1232G>A
ENST00000682226.1:n.687G>A
ENST00000682487.1:n.687G>A
ENST00000683330.1:n.687G>A
ENST00000683703.1:n.687G>A
ENST00000683837.1:n.687G>A
ENST00000684737.1:n.687G>A
ENST00000358385.12:c.353G>A MANE Select	ENSP00000351155.7:p.Arg118Gln
ENST00000674288.1:c.*1645G>A	ENSP00000501522.1:n.*1645G>A
ENST00000674478.1:n.687G>A
ENST00000358385.10:c.353G>A	ENSP00000351155.6:p.Arg118Gln
ENST00000441560.6:c.353G>A	ENSP00000413675.2:p.Arg118Gln
ENST00000553746.1:n.23G>A
ENST00000554886.1:c.-80G>A	ENSP00000452074.1:n.-80G>A
ENST00000557735.1:c.104G>A	ENSP00000451015.1:p.Arg35Gln
NM_001127713.1:c.353G>A	NP_001121185.1:p.Arg118Gln
NM_015915.4:c.353G>A	NP_056999.2:p.Arg118Gln
NM_181598.3:c.353G>A	NP_853629.2:p.Arg118Gln
NM_015915.5:c.353G>A MANE Select	NP_056999.2:p.Arg118Gln
NM_181598.4:c.353G>A	NP_853629.2:p.Arg118Gln