Canonical Allele Identifier: CA389674105
Community Standard Title: NM_015915.5(ATL1):c.1051A>G (p.Thr351Ala)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50623180A>G , CM000676.2:g.50623180A>G GRCh38
NC_000014.8:g.51089898A>G , CM000676.1:g.51089898A>G GRCh37
NC_000014.7:g.50159648A>G NCBI36
NG_009028.1:g.95099A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.1051A>G MANE Select NP_056999.2:p.Thr351Ala
ENST00000358385.12:c.1051A>G MANE Select ENSP00000351155.7:p.Thr351Ala
NM_001127713.1:c.1051A>G NP_001121185.1:p.Thr351Ala
NM_015915.4:c.1051A>G NP_056999.2:p.Thr351Ala
NM_181598.3:c.1051A>G NP_853629.2:p.Thr351Ala
NM_181598.4:c.1051A>G NP_853629.2:p.Thr351Ala
ENST00000358385.10:c.1051A>G ENSP00000351155.6:p.Thr351Ala
ENST00000441560.6:c.1051A>G ENSP00000413675.2:p.Thr351Ala
ENST00000553509.2:c.1051A>G ENSP00000450989.2:p.Thr351Ala
ENST00000555266.1:c.194A>G ENSP00000450897.1:n.194A>G
ENST00000556478.3:c.1051A>G ENSP00000501428.2:p.Thr351Ala
ENST00000674288.1:c.*2343A>G ENSP00000501522.1:n.*2343A>G
ENST00000682037.1:c.1051A>G ENSP00000508289.1:p.Thr351Ala
ENST00000682219.1:n.2389A>G
ENST00000682487.1:n.2662A>G
ENST00000683037.1:n.972A>G
ENST00000683330.1:n.1385A>G
ENST00000683837.1:n.1385A>G