Canonical Allele Identifier: CA2465386589
Gene: MTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150660461T= , CM000685.2:g.150660461T= GRCh38
NC_000023.10:g.149828934T= , CM000685.1:g.149828934T= GRCh37
NC_000023.9:g.149579592T= NCBI36
NG_008199.1:g.96888T= , LRG_839:g.96888T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.*977T= ENSP00000509844.1:n.*977T=
ENST00000685439.1:c.1099T= ENSP00000508454.1:p.Cys367=
ENST00000685944.1:c.1444T= ENSP00000509266.1:p.Cys482=
ENST00000686212.1:n.1046T=
ENST00000687215.1:c.*1199T= ENSP00000509706.1:n.*1199T=
ENST00000688152.1:c.*888T= ENSP00000509360.1:n.*888T=
ENST00000688403.1:c.700T= ENSP00000508944.1:p.Cys234=
ENST00000689314.1:c.1489T= ENSP00000510607.1:p.Cys497=
ENST00000689694.1:c.1444T= ENSP00000508718.1:p.Cys482=
ENST00000689810.1:c.*1093T= ENSP00000510635.1:n.*1093T=
ENST00000690282.1:c.700T= ENSP00000509809.1:p.Cys234=
ENST00000690351.1:c.*1096T= ENSP00000509728.1:n.*1096T=
ENST00000691232.1:c.1099T= ENSP00000509675.1:p.Cys367=
ENST00000691482.1:n.2459T=
ENST00000691686.1:c.1351T= ENSP00000509784.1:p.Cys451=
ENST00000691851.1:c.1053+10560T= ENSP00000510106.1:n.1053+10560T=
ENST00000692015.1:c.1231T= ENSP00000510634.1:p.Cys411=
ENST00000692638.1:c.*1242T= ENSP00000509412.1:n.*1242T=
ENST00000692852.1:c.1255T= ENSP00000510337.1:p.Cys419=
ENST00000692915.1:c.*1590T= ENSP00000508547.1:n.*1590T=
ENST00000370396.7:c.1444T= MANE Select ENSP00000359423.3:p.Cys482=
ENST00000306167.11:n.1311T=
ENST00000370396.6:c.1444T= ENSP00000359423.2:p.Cys482=
NM_000252.2:c.1444T= , LRG_839t1:c.1444T= NP_000243.1:p.Cys482=
XM_005274687.2:c.1444T= XP_005274744.1:p.Cys482=
XM_011531170.1:c.1510T= XP_011529472.1:p.Cys504=
XM_011531171.1:c.1489T= XP_011529473.1:p.Cys497=
XM_011531172.1:c.1489T= XP_011529474.1:p.Cys497=
XM_011531173.1:c.1444T= XP_011529475.1:p.Cys482=
XM_011531173.2:c.1444T= XP_011529475.1:p.Cys482=
XM_017029547.1:c.1489T= XP_016885036.1:p.Cys497=
XM_017029548.1:c.1489T= XP_016885037.1:p.Cys497=
XM_017029549.1:c.1444T= XP_016885038.1:p.Cys482=
XM_017029550.1:c.1333T= XP_016885039.1:p.Cys445=
XM_017029551.2:c.700T= XP_016885040.1:p.Cys234=
NM_000252.3:c.1444T= MANE Select NP_000243.1:p.Cys482=
NM_001376906.1:c.1444T= NP_001363835.1:p.Cys482=
NM_001376907.1:c.1333T= NP_001363836.1:p.Cys445=
NM_001376908.1:c.1444T= NP_001363837.1:p.Cys482=