Canonical Allele Identifier: CA389671154
Community Standard Title: NM_015915.5(ATL1):c.716G>A (p.Arg239His)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50613344G>A , CM000676.2:g.50613344G>A GRCh38
NC_000014.8:g.51080062G>A , CM000676.1:g.51080062G>A GRCh37
NC_000014.7:g.50149812G>A NCBI36
NG_009028.1:g.85263G>A

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.716G>A MANE Select NP_056999.2:p.Arg239His
ENST00000358385.12:c.716G>A MANE Select ENSP00000351155.7:p.Arg239His
NM_001127713.1:c.716G>A NP_001121185.1:p.Arg239His
NM_015915.4:c.716G>A NP_056999.2:p.Arg239His
NM_181598.3:c.716G>A NP_853629.2:p.Arg239His
NM_181598.4:c.716G>A NP_853629.2:p.Arg239His
ENST00000358385.10:c.716G>A ENSP00000351155.6:p.Arg239His
ENST00000441560.6:c.716G>A ENSP00000413675.2:p.Arg239His
ENST00000553509.2:c.716G>A ENSP00000450989.2:p.Arg239His
ENST00000556478.3:c.716G>A ENSP00000501428.2:p.Arg239His
ENST00000674288.1:c.*2008G>A ENSP00000501522.1:n.*2008G>A
ENST00000682037.1:c.716G>A ENSP00000508289.1:p.Arg239His
ENST00000682219.1:n.2054G>A
ENST00000682487.1:n.1050G>A
ENST00000683037.1:n.637G>A
ENST00000683330.1:n.1050G>A
ENST00000683837.1:n.1050G>A