Canonical Allele Identifier: CA389668280
Community Standard Title: NM_015915.5(ATL1):c.572A>G (p.Gln191Arg)
Gene: ATL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50593895A>G , CM000676.2:g.50593895A>G GRCh38
NC_000014.8:g.51060613A>G , CM000676.1:g.51060613A>G GRCh37
NC_000014.7:g.50130363A>G NCBI36
NG_009028.1:g.65814A>G

Transcript Alleles

HGVS Amino-acid Change
NM_015915.5:c.572A>G MANE Select NP_056999.2:p.Gln191Arg
ENST00000358385.12:c.572A>G MANE Select ENSP00000351155.7:p.Gln191Arg
NM_001127713.1:c.572A>G NP_001121185.1:p.Gln191Arg
NM_015915.4:c.572A>G NP_056999.2:p.Gln191Arg
NM_181598.3:c.572A>G NP_853629.2:p.Gln191Arg
NM_181598.4:c.572A>G NP_853629.2:p.Gln191Arg
ENST00000358385.10:c.572A>G ENSP00000351155.6:p.Gln191Arg
ENST00000441560.6:c.572A>G ENSP00000413675.2:p.Gln191Arg
ENST00000553509.2:c.572A>G ENSP00000450989.2:p.Gln191Arg
ENST00000554886.1:c.140A>G ENSP00000452074.1:p.Gln47Arg
ENST00000556478.3:c.572A>G ENSP00000501428.2:p.Gln191Arg
ENST00000674288.1:c.*1864A>G ENSP00000501522.1:n.*1864A>G
ENST00000674478.1:n.906A>G
ENST00000682037.1:c.572A>G ENSP00000508289.1:p.Gln191Arg
ENST00000682219.1:n.1910A>G
ENST00000682487.1:n.906A>G
ENST00000683330.1:n.906A>G
ENST00000683703.1:n.906A>G
ENST00000683837.1:n.906A>G
ENST00000684737.1:n.906A>G