Canonical Allele Identifier: CA2465380841
Gene: MTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641349G= , CM000685.2:g.150641349G= GRCh38
NC_000023.10:g.149809822G= , CM000685.1:g.149809822G= GRCh37
NC_000023.9:g.149560480G= NCBI36
NG_008199.1:g.77776G= , LRG_839:g.77776G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.*142G= ENSP00000509844.1:n.*142G=
ENST00000685439.1:c.264G= ENSP00000508454.1:p.Val88=
ENST00000685944.1:c.609G= ENSP00000509266.1:p.Val203=
ENST00000686212.1:n.211G=
ENST00000687215.1:c.*364G= ENSP00000509706.1:n.*364G=
ENST00000688152.1:c.*53G= ENSP00000509360.1:n.*53G=
ENST00000688403.1:c.-136G= ENSP00000508944.1:n.-136G=
ENST00000689314.1:c.654G= ENSP00000510607.1:p.Val218=
ENST00000689694.1:c.609G= ENSP00000508718.1:p.Val203=
ENST00000689810.1:c.*258G= ENSP00000510635.1:n.*258G=
ENST00000690282.1:c.-136G= ENSP00000509809.1:n.-136G=
ENST00000690351.1:c.*261G= ENSP00000509728.1:n.*261G=
ENST00000691232.1:c.264G= ENSP00000509675.1:p.Val88=
ENST00000691482.1:n.1624G=
ENST00000691686.1:c.609G= ENSP00000509784.1:p.Val203=
ENST00000691851.1:c.609G= ENSP00000510106.1:p.Val203=
ENST00000692015.1:c.396G= ENSP00000510634.1:p.Val132=
ENST00000692638.1:c.*414G= ENSP00000509412.1:n.*414G=
ENST00000692852.1:c.609G= ENSP00000510337.1:p.Val203=
ENST00000692915.1:c.*816G= ENSP00000508547.1:n.*816G=
ENST00000370396.7:c.609G= MANE Select ENSP00000359423.3:p.Val203=
ENST00000306167.11:n.476G=
ENST00000370396.6:c.609G= ENSP00000359423.2:p.Val203=
ENST00000490530.1:n.548G=
NM_000252.2:c.609G= , LRG_839t1:c.609G= NP_000243.1:p.Val203=
XM_005274687.2:c.609G= XP_005274744.1:p.Val203=
XM_011531170.1:c.675G= XP_011529472.1:p.Val225=
XM_011531171.1:c.654G= XP_011529473.1:p.Val218=
XM_011531172.1:c.654G= XP_011529474.1:p.Val218=
XM_011531173.1:c.609G= XP_011529475.1:p.Val203=
XM_011531173.2:c.609G= XP_011529475.1:p.Val203=
XM_017029547.1:c.654G= XP_016885036.1:p.Val218=
XM_017029548.1:c.654G= XP_016885037.1:p.Val218=
XM_017029549.1:c.609G= XP_016885038.1:p.Val203=
XM_017029550.1:c.498G= XP_016885039.1:p.Val166=
XM_017029551.2:c.-136G= XP_016885040.1:n.-136G=
NM_000252.3:c.609G= MANE Select NP_000243.1:p.Val203=
NM_001376906.1:c.609G= NP_001363835.1:p.Val203=
NM_001376907.1:c.498G= NP_001363836.1:p.Val166=
NM_001376908.1:c.609G= NP_001363837.1:p.Val203=