Canonical Allele Identifier: CA415256007
Gene: MTM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641297C>A , CM000685.2:g.150641297C>A GRCh38
NC_000023.10:g.149809770C>A , CM000685.1:g.149809770C>A GRCh37
NC_000023.9:g.149560428C>A NCBI36
NG_008199.1:g.77724C>A , LRG_839:g.77724C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.*90C>A ENSP00000509844.1:n.*90C>A
ENST00000685439.1:c.212C>A ENSP00000508454.1:p.Thr71Asn
ENST00000685944.1:c.557C>A ENSP00000509266.1:p.Thr186Asn
ENST00000686212.1:n.159C>A
ENST00000687215.1:c.*312C>A ENSP00000509706.1:n.*312C>A
ENST00000688152.1:c.*1C>A ENSP00000509360.1:n.*1C>A
ENST00000688403.1:c.-188C>A ENSP00000508944.1:n.-188C>A
ENST00000689314.1:c.602C>A ENSP00000510607.1:p.Thr201Asn
ENST00000689694.1:c.557C>A ENSP00000508718.1:p.Thr186Asn
ENST00000689810.1:c.*206C>A ENSP00000510635.1:n.*206C>A
ENST00000690282.1:c.-188C>A ENSP00000509809.1:n.-188C>A
ENST00000690351.1:c.*209C>A ENSP00000509728.1:n.*209C>A
ENST00000691232.1:c.212C>A ENSP00000509675.1:p.Thr71Asn
ENST00000691482.1:n.1572C>A
ENST00000691686.1:c.557C>A ENSP00000509784.1:p.Thr186Asn
ENST00000691851.1:c.557C>A ENSP00000510106.1:p.Thr186Asn
ENST00000692015.1:c.344C>A ENSP00000510634.1:p.Thr115Asn
ENST00000692638.1:c.*362C>A ENSP00000509412.1:n.*362C>A
ENST00000692852.1:c.557C>A ENSP00000510337.1:p.Thr186Asn
ENST00000692915.1:c.*764C>A ENSP00000508547.1:n.*764C>A
ENST00000370396.7:c.557C>A MANE Select ENSP00000359423.3:p.Thr186Asn
ENST00000306167.11:n.424C>A
ENST00000370396.6:c.557C>A ENSP00000359423.2:p.Thr186Asn
ENST00000490530.1:n.496C>A
NM_000252.2:c.557C>A , LRG_839t1:c.557C>A NP_000243.1:p.Thr186Asn
XM_005274687.2:c.557C>A XP_005274744.1:p.Thr186Asn
XM_011531170.1:c.623C>A XP_011529472.1:p.Thr208Asn
XM_011531171.1:c.602C>A XP_011529473.1:p.Thr201Asn
XM_011531172.1:c.602C>A XP_011529474.1:p.Thr201Asn
XM_011531173.1:c.557C>A XP_011529475.1:p.Thr186Asn
XM_011531173.2:c.557C>A XP_011529475.1:p.Thr186Asn
XM_017029547.1:c.602C>A XP_016885036.1:p.Thr201Asn
XM_017029548.1:c.602C>A XP_016885037.1:p.Thr201Asn
XM_017029549.1:c.557C>A XP_016885038.1:p.Thr186Asn
XM_017029550.1:c.446C>A XP_016885039.1:p.Thr149Asn
XM_017029551.2:c.-188C>A XP_016885040.1:n.-188C>A
NM_000252.3:c.557C>A MANE Select NP_000243.1:p.Thr186Asn
NM_001376906.1:c.557C>A NP_001363835.1:p.Thr186Asn
NM_001376907.1:c.446C>A NP_001363836.1:p.Thr149Asn
NM_001376908.1:c.557C>A NP_001363837.1:p.Thr186Asn