Canonical Allele Identifier: CA389667531
Community Standard Title: NM_015915.5(ATL1):c.488T>C (p.Val163Ala)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50591605T>C , CM000676.2:g.50591605T>C GRCh38
NC_000014.8:g.51058323T>C , CM000676.1:g.51058323T>C GRCh37
NC_000014.7:g.50128073T>C NCBI36
NG_009028.1:g.63524T>C

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.488T>C MANE Select NP_056999.2:p.Val163Ala
ENST00000358385.12:c.488T>C MANE Select ENSP00000351155.7:p.Val163Ala
NM_001127713.1:c.488T>C NP_001121185.1:p.Val163Ala
NM_015915.4:c.488T>C NP_056999.2:p.Val163Ala
NM_181598.3:c.488T>C NP_853629.2:p.Val163Ala
NM_181598.4:c.488T>C NP_853629.2:p.Val163Ala
ENST00000358385.10:c.488T>C ENSP00000351155.6:p.Val163Ala
ENST00000441560.6:c.488T>C ENSP00000413675.2:p.Val163Ala
ENST00000553509.2:c.488T>C ENSP00000450989.2:p.Val163Ala
ENST00000553746.1:n.158T>C
ENST00000553746.2:n.2446T>C
ENST00000554886.1:c.56T>C ENSP00000452074.1:p.Val19Ala
ENST00000556478.3:c.488T>C ENSP00000501428.2:p.Val163Ala
ENST00000674288.1:c.*1780T>C ENSP00000501522.1:n.*1780T>C
ENST00000674478.1:n.822T>C
ENST00000682037.1:c.488T>C ENSP00000508289.1:p.Val163Ala
ENST00000682219.1:n.1826T>C
ENST00000682226.1:n.822T>C
ENST00000682487.1:n.822T>C
ENST00000683330.1:n.822T>C
ENST00000683703.1:n.822T>C
ENST00000683837.1:n.822T>C
ENST00000684737.1:n.822T>C