Canonical Allele Identifier: CA271879
Gene: MTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150619115C>G , CM000685.2:g.150619115C>G GRCh38
NC_000023.10:g.149787588C>G , CM000685.1:g.149787588C>G GRCh37
NC_000023.9:g.149538246C>G NCBI36
NG_008199.1:g.55542C>G , LRG_839:g.55542C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.137-19828C>G ENSP00000509844.1:n.137-19828C>G
ENST00000685439.1:c.75C>G ENSP00000508454.1:p.Tyr25Ter
ENST00000685944.1:c.420C>G ENSP00000509266.1:p.Tyr140Ter
ENST00000687215.1:c.135C>G ENSP00000509706.1:p.Tyr45Ter
ENST00000687365.1:n.475C>G
ENST00000688152.1:c.420C>G ENSP00000509360.1:p.Tyr140Ter
ENST00000688403.1:c.-300-19828C>G ENSP00000508944.1:n.-300-19828C>G
ENST00000689314.1:c.465C>G ENSP00000510607.1:p.Tyr155Ter
ENST00000689694.1:c.420C>G ENSP00000508718.1:p.Tyr140Ter
ENST00000689810.1:c.420C>G ENSP00000510635.1:p.Tyr140Ter
ENST00000690282.1:c.-300-19828C>G ENSP00000509809.1:n.-300-19828C>G
ENST00000690351.1:c.*16C>G ENSP00000509728.1:n.*16C>G
ENST00000691232.1:c.75C>G ENSP00000509675.1:p.Tyr25Ter
ENST00000691686.1:c.420C>G ENSP00000509784.1:p.Tyr140Ter
ENST00000691851.1:c.420C>G ENSP00000510106.1:p.Tyr140Ter
ENST00000692015.1:c.232-19828C>G ENSP00000510634.1:n.232-19828C>G
ENST00000692638.1:c.*169C>G ENSP00000509412.1:n.*169C>G
ENST00000692852.1:c.420C>G ENSP00000510337.1:p.Tyr140Ter
ENST00000692915.1:c.*415C>G ENSP00000508547.1:n.*415C>G
ENST00000370396.7:c.420C>G MANE Select ENSP00000359423.3:p.Tyr140Ter
ENST00000306167.11:n.287C>G
ENST00000370396.6:c.420C>G ENSP00000359423.2:p.Tyr140Ter
ENST00000424519.1:c.232-19828C>G ENSP00000400699.1:n.232-19828C>G
ENST00000490530.1:n.359C>G
NM_000252.2:c.420C>G , LRG_839t1:c.420C>G NP_000243.1:p.Tyr140Ter
XM_005274687.2:c.420C>G XP_005274744.1:p.Tyr140Ter
XM_011531170.1:c.486C>G XP_011529472.1:p.Tyr162Ter
XM_011531171.1:c.465C>G XP_011529473.1:p.Tyr155Ter
XM_011531172.1:c.465C>G XP_011529474.1:p.Tyr155Ter
XM_011531173.1:c.420C>G XP_011529475.1:p.Tyr140Ter
XM_011531173.2:c.420C>G XP_011529475.1:p.Tyr140Ter
XM_017029547.1:c.465C>G XP_016885036.1:p.Tyr155Ter
XM_017029548.1:c.465C>G XP_016885037.1:p.Tyr155Ter
XM_017029549.1:c.420C>G XP_016885038.1:p.Tyr140Ter
XM_017029550.1:c.309C>G XP_016885039.1:p.Tyr103Ter
NM_000252.3:c.420C>G MANE Select NP_000243.1:p.Tyr140Ter
NM_001376906.1:c.420C>G NP_001363835.1:p.Tyr140Ter
NM_001376907.1:c.309C>G NP_001363836.1:p.Tyr103Ter
NM_001376908.1:c.420C>G NP_001363837.1:p.Tyr140Ter