Canonical Allele Identifier: CA364594162
Community Standard Title: NM_001281747.2(MLIP):c.628C>T (p.Gln210Ter)
Gene: MLIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.54124848C>T , CM000668.2:g.54124848C>T GRCh38
NC_000006.11:g.53989646C>T , CM000668.1:g.53989646C>T GRCh37
NC_000006.10:g.54097605C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001281747.2:c.628C>T MANE Select NP_001268676.1:p.Gln210Ter
ENST00000502396.6:c.628C>T MANE Select ENSP00000426290.1:p.Gln210Ter
NM_001281746.1:c.595C>T NP_001268675.1:p.Gln199Ter
NM_001281746.2:c.595C>T NP_001268675.1:p.Gln199Ter
NM_001281747.1:c.628C>T NP_001268676.1:p.Gln210Ter
NM_138569.2:c.595C>T NP_612636.2:p.Gln199Ter
NM_138569.3:c.595C>T NP_612636.2:p.Gln199Ter
ENST00000274897.9:c.595C>T ENSP00000274897.5:p.Gln199Ter
ENST00000370876.6:c.409C>T ENSP00000359913.2:p.Gln137Ter
ENST00000370877.6:c.439C>T ENSP00000359914.2:p.Gln147Ter
ENST00000447836.6:c.241C>T ENSP00000411917.2:p.Gln81Ter
ENST00000502396.5:c.628C>T ENSP00000426290.1:p.Gln210Ter
ENST00000503951.5:c.472C>T ENSP00000426830.1:p.Gln158Ter
ENST00000509997.5:c.439C>T ENSP00000427584.1:p.Gln147Ter
ENST00000511678.5:c.241C>T ENSP00000427057.1:p.Gln81Ter
ENST00000511744.1:n.661C>T
ENST00000514433.1:c.598C>T ENSP00000421444.1:p.Gln200Ter
ENST00000514921.5:c.595C>T ENSP00000425142.1:p.Gln199Ter
XM_005249476.3:c.595C>T XP_005249533.1:p.Gln199Ter
XM_005249476.5:c.595C>T XP_005249533.1:p.Gln199Ter
XM_005249477.3:c.565C>T XP_005249534.1:p.Gln189Ter
XM_005249478.3:c.439C>T XP_005249535.1:p.Gln147Ter
XM_005249478.5:c.439C>T XP_005249535.1:p.Gln147Ter
XM_005249480.3:c.595C>T XP_005249537.1:p.Gln199Ter
XM_005249480.5:c.595C>T XP_005249537.1:p.Gln199Ter
XM_006715245.2:c.577C>T XP_006715308.1:p.Gln193Ter
XM_006715245.3:c.628C>T XP_006715308.2:p.Gln210Ter
XM_006715247.2:c.241C>T XP_006715310.1:p.Gln81Ter
XM_006715248.2:c.241C>T XP_006715311.1:p.Gln81Ter
XM_011514990.1:c.595C>T XP_011513292.1:p.Gln199Ter
XM_017011465.1:c.628C>T XP_016866954.1:p.Gln210Ter
XM_017011466.2:c.628C>T XP_016866955.1:p.Gln210Ter
XM_017011467.1:c.628C>T XP_016866956.1:p.Gln210Ter
XM_017011468.1:c.628C>T XP_016866957.1:p.Gln210Ter
XM_017011469.1:c.241C>T XP_016866958.1:p.Gln81Ter
XM_017011470.1:c.565C>T XP_016866959.1:p.Gln189Ter
XM_024446578.1:c.241C>T XP_024302346.1:p.Gln81Ter
XM_024446579.1:c.595C>T XP_024302347.1:p.Gln199Ter
XM_024446580.1:c.595C>T XP_024302348.1:p.Gln199Ter
XM_024446581.1:c.439C>T XP_024302349.1:p.Gln147Ter
XM_024446582.1:c.595C>T XP_024302350.1:p.Gln199Ter