Canonical Allele Identifier: CA381670394
Community Standard Title: NM_018043.7(ANO1):c.1972A>G (p.Met658Val)
Gene: ANO1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70165491A>G , CM000673.2:g.70165491A>G GRCh38
NC_000011.9:g.70011597A>G , CM000673.1:g.70011597A>G GRCh37
NC_000011.8:g.69689245A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018043.7:c.1972A>G MANE Select NP_060513.5:p.Met658Val
ENST00000355303.10:c.1972A>G MANE Select ENSP00000347454.5:p.Met658Val
NM_001378092.1:c.2161A>G NP_001365021.1:p.Met721Val
NM_001378093.1:c.1960A>G NP_001365022.1:p.Met654Val
NM_001378094.2:c.1960A>G NP_001365023.1:p.Met654Val
NM_001378095.2:c.1960A>G NP_001365024.1:p.Met654Val
NM_001378096.2:c.1882A>G NP_001365025.1:p.Met628Val
NM_001378097.2:c.1795A>G NP_001365026.1:p.Met599Val
NM_018043.5:c.1972A>G NP_060513.5:p.Met658Val
NM_018043.6:c.1972A>G NP_060513.5:p.Met658Val
NR_030691.1:n.2035A>G
NR_030691.2:n.2027A>G
ENST00000355303.9:c.1972A>G ENSP00000347454.5:p.Met658Val
ENST00000529636.5:n.130A>G
ENST00000530676.5:c.1534A>G ENSP00000435797.1:p.Met512Val
ENST00000531349.5:c.1099A>G ENSP00000432843.1:p.Met367Val
ENST00000531349.6:c.2161A>G ENSP00000432843.2:p.Met721Val
ENST00000689710.1:n.1315A>G
XM_006718602.1:c.1954A>G XP_006718665.1:p.Met652Val
XM_006718602.2:c.1954A>G XP_006718665.1:p.Met652Val
XM_006718604.1:c.1690A>G XP_006718667.1:p.Met564Val
XM_006718604.2:c.1690A>G XP_006718667.1:p.Met564Val
XM_006718605.1:c.1534A>G XP_006718668.1:p.Met512Val
XM_006718605.2:c.1534A>G XP_006718668.1:p.Met512Val
XM_011545121.1:c.2038A>G XP_011543423.1:p.Met680Val
XM_011545121.2:c.2038A>G XP_011543423.1:p.Met680Val
XM_011545122.1:c.2035A>G XP_011543424.1:p.Met679Val
XM_011545123.1:c.2035A>G XP_011543425.1:p.Met679Val
XM_011545123.2:c.2035A>G XP_011543425.1:p.Met679Val
XM_011545124.1:c.2026A>G XP_011543426.1:p.Met676Val
XM_011545124.2:c.2026A>G XP_011543426.1:p.Met676Val
XM_011545125.1:c.1960A>G XP_011543427.1:p.Met654Val
XM_011545125.2:c.1960A>G XP_011543427.1:p.Met654Val
XM_011545126.1:c.1948A>G XP_011543428.1:p.Met650Val
XM_011545126.2:c.1948A>G XP_011543428.1:p.Met650Val
XM_011545127.1:c.1894A>G XP_011543429.1:p.Met632Val
XM_011545127.2:c.1894A>G XP_011543429.1:p.Met632Val
XM_011545128.1:c.1882A>G XP_011543430.1:p.Met628Val
XM_011545128.2:c.1882A>G XP_011543430.1:p.Met628Val
XM_011545129.1:c.1951A>G XP_011543431.1:p.Met651Val
XM_011545129.2:c.1951A>G XP_011543431.1:p.Met651Val
XM_011545130.1:c.1690A>G XP_011543432.1:p.Met564Val
XM_017017956.1:c.1969A>G XP_016873445.1:p.Met657Val
XM_017017957.1:c.1960A>G XP_016873446.1:p.Met654Val