Canonical Allele Identifier: CA348023
Gene: ATL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219827
dbSNP Id: rs864622269

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50628394C>T , CM000676.2:g.50628394C>T GRCh38
NC_000014.8:g.51095112C>T , CM000676.1:g.51095112C>T GRCh37
NC_000014.7:g.50164862C>T NCBI36
NG_009028.1:g.100313C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553509.2:c.1483C>T ENSP00000450989.2:p.Arg495Trp
ENST00000556478.3:c.1483C>T ENSP00000501428.2:p.Arg495Trp
ENST00000682037.1:c.1483C>T ENSP00000508289.1:p.Arg495Trp
ENST00000682219.1:n.2821C>T
ENST00000683037.1:n.1404C>T
ENST00000683330.1:n.1817C>T
ENST00000358385.12:c.1483C>T MANE Select ENSP00000351155.7:p.Arg495Trp
ENST00000674288.1:c.*2775C>T ENSP00000501522.1:n.*2775C>T
ENST00000358385.10:c.1483C>T ENSP00000351155.6:p.Arg495Trp
ENST00000441560.6:c.1483C>T ENSP00000413675.2:p.Arg495Trp
ENST00000556067.1:c.229C>T ENSP00000451100.1:p.Arg77Trp
NM_001127713.1:c.1483C>T NP_001121185.1:p.Arg495Trp
NM_015915.4:c.1483C>T NP_056999.2:p.Arg495Trp
NM_181598.3:c.1483C>T NP_853629.2:p.Arg495Trp
NM_015915.5:c.1483C>T MANE Select NP_056999.2:p.Arg495Trp
NM_181598.4:c.1483C>T NP_853629.2:p.Arg495Trp