Canonical Allele Identifier: CA7180374

Gene: ATL1

Linked Data

• ClinVar Variation Id: 410597
• ClinVar RCV Id: RCV000464748 ; RCV000518566 ; RCV002379471
• dbSNP Id: rs372029461
• ExAC: 14:51087448 T / A
• gnomAD v2: 14-51087448-T-A
• gnomAD v3: 14-50620730-T-A
• gnomAD v4: 14-50620730-T-A
• MyVariant Identifiers: chr14:g.51087448T>A (hg19) ; chr14:g.50620730T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50620730T>A , CM000676.2:g.50620730T>A	GRCh38
NC_000014.8:g.51087448T>A , CM000676.1:g.51087448T>A	GRCh37
NC_000014.7:g.50157198T>A	NCBI36
NG_009028.1:g.92649T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553509.2:c.990+4T>A	ENSP00000450989.2:n.990+4T>A
ENST00000556478.3:c.990+4T>A	ENSP00000501428.2:n.990+4T>A
ENST00000682037.1:c.990+4T>A	ENSP00000508289.1:n.990+4T>A
ENST00000682219.1:n.2328+4T>A
ENST00000682487.1:n.1324+4T>A
ENST00000683037.1:n.911+4T>A
ENST00000683330.1:n.1324+4T>A
ENST00000683837.1:n.1324+4T>A
ENST00000358385.12:c.990+4T>A MANE Select	ENSP00000351155.7:n.990+4T>A
ENST00000674288.1:c.*2282+4T>A	ENSP00000501522.1:n.*2282+4T>A
ENST00000358385.10:c.990+4T>A	ENSP00000351155.6:n.990+4T>A
ENST00000441560.6:c.990+4T>A	ENSP00000413675.2:n.990+4T>A
ENST00000555266.1:c.134-1113T>A	ENSP00000450897.1:n.134-1113T>A
NM_001127713.1:c.990+4T>A	NP_001121185.1:n.990+4T>A
NM_015915.4:c.990+4T>A	NP_056999.2:n.990+4T>A
NM_181598.3:c.990+4T>A	NP_853629.2:n.990+4T>A
NM_015915.5:c.990+4T>A MANE Select	NP_056999.2:n.990+4T>A
NM_181598.4:c.990+4T>A	NP_853629.2:n.990+4T>A