Canonical Allele Identifier: CA7180368

Gene: ATL1

Linked Data

• ClinVar Variation Id: 471253
• ClinVar RCV Id: RCV002530064 ; RCV003235284
• dbSNP Id: rs770538531
• ExAC: 14:51087407 A / T
• gnomAD v2: 14-51087407-A-T
• gnomAD v3: 14-50620689-A-T
• gnomAD v4: 14-50620689-A-T
• MyVariant Identifiers: chr14:g.51087407A>T (hg19) ; chr14:g.50620689A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50620689A>T , CM000676.2:g.50620689A>T	GRCh38
NC_000014.8:g.51087407A>T , CM000676.1:g.51087407A>T	GRCh37
NC_000014.7:g.50157157A>T	NCBI36
NG_009028.1:g.92608A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000553509.2:c.953A>T	ENSP00000450989.2:p.Asn318Ile
ENST00000556478.3:c.953A>T	ENSP00000501428.2:p.Asn318Ile
ENST00000682037.1:c.953A>T	ENSP00000508289.1:p.Asn318Ile
ENST00000682219.1:n.2291A>T
ENST00000682487.1:n.1287A>T
ENST00000683037.1:n.874A>T
ENST00000683330.1:n.1287A>T
ENST00000683837.1:n.1287A>T
ENST00000358385.12:c.953A>T MANE Select	ENSP00000351155.7:p.Asn318Ile
ENST00000674288.1:c.*2245A>T	ENSP00000501522.1:n.*2245A>T
ENST00000358385.10:c.953A>T	ENSP00000351155.6:p.Asn318Ile
ENST00000441560.6:c.953A>T	ENSP00000413675.2:p.Asn318Ile
ENST00000555266.1:c.134-1154A>T	ENSP00000450897.1:n.134-1154A>T
NM_001127713.1:c.953A>T	NP_001121185.1:p.Asn318Ile
NM_015915.4:c.953A>T	NP_056999.2:p.Asn318Ile
NM_181598.3:c.953A>T	NP_853629.2:p.Asn318Ile
NM_015915.5:c.953A>T MANE Select	NP_056999.2:p.Asn318Ile
NM_181598.4:c.953A>T	NP_853629.2:p.Asn318Ile