Canonical Allele Identifier: CA415256242
Gene: MTM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641407A>C , CM000685.2:g.150641407A>C GRCh38
NC_000023.10:g.149809880A>C , CM000685.1:g.149809880A>C GRCh37
NC_000023.9:g.149560538A>C NCBI36
NG_008199.1:g.77834A>C , LRG_839:g.77834A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.*200A>C ENSP00000509844.1:n.*200A>C
ENST00000685439.1:c.322A>C ENSP00000508454.1:p.Asn108His
ENST00000685944.1:c.667A>C ENSP00000509266.1:p.Asn223His
ENST00000686212.1:n.269A>C
ENST00000687215.1:c.*422A>C ENSP00000509706.1:n.*422A>C
ENST00000688152.1:c.*111A>C ENSP00000509360.1:n.*111A>C
ENST00000688403.1:c.-78A>C ENSP00000508944.1:n.-78A>C
ENST00000689314.1:c.712A>C ENSP00000510607.1:p.Asn238His
ENST00000689694.1:c.667A>C ENSP00000508718.1:p.Asn223His
ENST00000689810.1:c.*316A>C ENSP00000510635.1:n.*316A>C
ENST00000690282.1:c.-78A>C ENSP00000509809.1:n.-78A>C
ENST00000690351.1:c.*319A>C ENSP00000509728.1:n.*319A>C
ENST00000691232.1:c.322A>C ENSP00000509675.1:p.Asn108His
ENST00000691482.1:n.1682A>C
ENST00000691686.1:c.667A>C ENSP00000509784.1:p.Asn223His
ENST00000691851.1:c.667A>C ENSP00000510106.1:p.Asn223His
ENST00000692015.1:c.454A>C ENSP00000510634.1:p.Asn152His
ENST00000692638.1:c.*472A>C ENSP00000509412.1:n.*472A>C
ENST00000692852.1:c.667A>C ENSP00000510337.1:p.Asn223His
ENST00000692915.1:c.*874A>C ENSP00000508547.1:n.*874A>C
ENST00000370396.7:c.667A>C MANE Select ENSP00000359423.3:p.Asn223His
ENST00000306167.11:n.534A>C
ENST00000370396.6:c.667A>C ENSP00000359423.2:p.Asn223His
ENST00000490530.1:n.606A>C
NM_000252.2:c.667A>C , LRG_839t1:c.667A>C NP_000243.1:p.Asn223His
XM_005274687.2:c.667A>C XP_005274744.1:p.Asn223His
XM_011531170.1:c.733A>C XP_011529472.1:p.Asn245His
XM_011531171.1:c.712A>C XP_011529473.1:p.Asn238His
XM_011531172.1:c.712A>C XP_011529474.1:p.Asn238His
XM_011531173.1:c.667A>C XP_011529475.1:p.Asn223His
XM_011531173.2:c.667A>C XP_011529475.1:p.Asn223His
XM_017029547.1:c.712A>C XP_016885036.1:p.Asn238His
XM_017029548.1:c.712A>C XP_016885037.1:p.Asn238His
XM_017029549.1:c.667A>C XP_016885038.1:p.Asn223His
XM_017029550.1:c.556A>C XP_016885039.1:p.Asn186His
XM_017029551.2:c.-78A>C XP_016885040.1:n.-78A>C
NM_000252.3:c.667A>C MANE Select NP_000243.1:p.Asn223His
NM_001376906.1:c.667A>C NP_001363835.1:p.Asn223His
NM_001376907.1:c.556A>C NP_001363836.1:p.Asn186His
NM_001376908.1:c.667A>C NP_001363837.1:p.Asn223His