Canonical Allele Identifier: CA381672010
Community Standard Title: NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)
Gene: ANO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70170908C>T , CM000673.2:g.70170908C>T GRCh38
NC_000011.9:g.70017014C>T , CM000673.1:g.70017014C>T GRCh37
NC_000011.8:g.69694662C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018043.7:c.2219C>T MANE Select NP_060513.5:p.Thr740Ile
ENST00000355303.10:c.2219C>T MANE Select ENSP00000347454.5:p.Thr740Ile
NM_001378092.1:c.2408C>T NP_001365021.1:p.Thr803Ile
NM_001378093.1:c.2207C>T NP_001365022.1:p.Thr736Ile
NM_001378094.2:c.2207C>T NP_001365023.1:p.Thr736Ile
NM_001378095.2:c.2207C>T NP_001365024.1:p.Thr736Ile
NM_001378096.2:c.2129C>T NP_001365025.1:p.Thr710Ile
NM_001378097.2:c.2042C>T NP_001365026.1:p.Thr681Ile
NM_018043.5:c.2219C>T NP_060513.5:p.Thr740Ile
NM_018043.6:c.2219C>T NP_060513.5:p.Thr740Ile
NR_030691.1:n.2282C>T
NR_030691.2:n.2274C>T
ENST00000355303.9:c.2219C>T ENSP00000347454.5:p.Thr740Ile
ENST00000525494.1:n.225C>T
ENST00000529636.5:n.377C>T
ENST00000530676.5:c.1781C>T ENSP00000435797.1:p.Thr594Ile
ENST00000531349.5:c.1346C>T ENSP00000432843.1:p.Thr449Ile
ENST00000531349.6:c.2408C>T ENSP00000432843.2:p.Thr803Ile
ENST00000689710.1:n.1562C>T
XM_006718602.1:c.2201C>T XP_006718665.1:p.Thr734Ile
XM_006718602.2:c.2201C>T XP_006718665.1:p.Thr734Ile
XM_006718604.1:c.1937C>T XP_006718667.1:p.Thr646Ile
XM_006718604.2:c.1937C>T XP_006718667.1:p.Thr646Ile
XM_006718605.1:c.1781C>T XP_006718668.1:p.Thr594Ile
XM_006718605.2:c.1781C>T XP_006718668.1:p.Thr594Ile
XM_011545121.1:c.2285C>T XP_011543423.1:p.Thr762Ile
XM_011545121.2:c.2285C>T XP_011543423.1:p.Thr762Ile
XM_011545122.1:c.2282C>T XP_011543424.1:p.Thr761Ile
XM_011545123.1:c.2282C>T XP_011543425.1:p.Thr761Ile
XM_011545123.2:c.2282C>T XP_011543425.1:p.Thr761Ile
XM_011545124.1:c.2273C>T XP_011543426.1:p.Thr758Ile
XM_011545124.2:c.2273C>T XP_011543426.1:p.Thr758Ile
XM_011545125.1:c.2207C>T XP_011543427.1:p.Thr736Ile
XM_011545125.2:c.2207C>T XP_011543427.1:p.Thr736Ile
XM_011545126.1:c.2195C>T XP_011543428.1:p.Thr732Ile
XM_011545126.2:c.2195C>T XP_011543428.1:p.Thr732Ile
XM_011545127.1:c.2141C>T XP_011543429.1:p.Thr714Ile
XM_011545127.2:c.2141C>T XP_011543429.1:p.Thr714Ile
XM_011545128.1:c.2129C>T XP_011543430.1:p.Thr710Ile
XM_011545128.2:c.2129C>T XP_011543430.1:p.Thr710Ile
XM_011545129.1:c.2198C>T XP_011543431.1:p.Thr733Ile
XM_011545129.2:c.2198C>T XP_011543431.1:p.Thr733Ile
XM_011545130.1:c.1937C>T XP_011543432.1:p.Thr646Ile
XM_017017956.1:c.2216C>T XP_016873445.1:p.Thr739Ile
XM_017017957.1:c.2207C>T XP_016873446.1:p.Thr736Ile