Canonical Allele Identifier: CA7180487
Gene: ATL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1523445
ClinVar RCV Id: RCV002048916
dbSNP Id: rs778172917

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50628371C>T , CM000676.2:g.50628371C>T GRCh38
NC_000014.8:g.51095089C>T , CM000676.1:g.51095089C>T GRCh37
NC_000014.7:g.50164839C>T NCBI36
NG_009028.1:g.100290C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553509.2:c.1460C>T ENSP00000450989.2:p.Thr487Ile
ENST00000556478.3:c.1460C>T ENSP00000501428.2:p.Thr487Ile
ENST00000682037.1:c.1460C>T ENSP00000508289.1:p.Thr487Ile
ENST00000682219.1:n.2798C>T
ENST00000683037.1:n.1381C>T
ENST00000683330.1:n.1794C>T
ENST00000358385.12:c.1460C>T MANE Select ENSP00000351155.7:p.Thr487Ile
ENST00000674288.1:c.*2752C>T ENSP00000501522.1:n.*2752C>T
ENST00000358385.10:c.1460C>T ENSP00000351155.6:p.Thr487Ile
ENST00000441560.6:c.1460C>T ENSP00000413675.2:p.Thr487Ile
ENST00000556067.1:c.206C>T ENSP00000451100.1:p.Thr69Ile
NM_001127713.1:c.1460C>T NP_001121185.1:p.Thr487Ile
NM_015915.4:c.1460C>T NP_056999.2:p.Thr487Ile
NM_181598.3:c.1460C>T NP_853629.2:p.Thr487Ile
NM_015915.5:c.1460C>T MANE Select NP_056999.2:p.Thr487Ile
NM_181598.4:c.1460C>T NP_853629.2:p.Thr487Ile