Canonical Allele Identifier: CA271858
Gene: MTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150614587A>C , CM000685.2:g.150614587A>C GRCh38
NC_000023.10:g.149783060A>C , CM000685.1:g.149783060A>C GRCh37
NC_000023.9:g.149533718A>C NCBI36
NG_008199.1:g.51014A>C , LRG_839:g.51014A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684910.1:c.136+18017A>C ENSP00000509844.1:n.136+18017A>C
ENST00000685439.1:c.-3-4451A>C ENSP00000508454.1:n.-3-4451A>C
ENST00000685944.1:c.232-2A>C ENSP00000509266.1:n.232-2A>C
ENST00000687215.1:c.-54-2A>C ENSP00000509706.1:n.-54-2A>C
ENST00000687365.1:n.287-2A>C
ENST00000688152.1:c.232-2A>C ENSP00000509360.1:n.232-2A>C
ENST00000688403.1:c.-300-24356A>C ENSP00000508944.1:n.-300-24356A>C
ENST00000689314.1:c.277-2A>C ENSP00000510607.1:n.277-2A>C
ENST00000689694.1:c.232-2A>C ENSP00000508718.1:n.232-2A>C
ENST00000689810.1:c.232-2A>C ENSP00000510635.1:n.232-2A>C
ENST00000690282.1:c.-300-24356A>C ENSP00000509809.1:n.-300-24356A>C
ENST00000690351.1:c.137-4451A>C ENSP00000509728.1:n.137-4451A>C
ENST00000691232.1:c.-3-4451A>C ENSP00000509675.1:n.-3-4451A>C
ENST00000691686.1:c.232-2A>C ENSP00000509784.1:n.232-2A>C
ENST00000691851.1:c.232-2A>C ENSP00000510106.1:n.232-2A>C
ENST00000692015.1:c.231+15901A>C ENSP00000510634.1:n.231+15901A>C
ENST00000692638.1:c.137-2A>C ENSP00000509412.1:n.137-2A>C
ENST00000692852.1:c.232-2A>C ENSP00000510337.1:n.232-2A>C
ENST00000692915.1:c.*227-2A>C ENSP00000508547.1:n.*227-2A>C
ENST00000370396.7:c.232-2A>C MANE Select ENSP00000359423.3:n.232-2A>C
ENST00000306167.11:n.260-4501A>C
ENST00000370396.6:c.232-2A>C ENSP00000359423.2:n.232-2A>C
ENST00000424519.1:c.231+15901A>C ENSP00000400699.1:n.231+15901A>C
ENST00000490530.1:n.171-2A>C
NM_000252.2:c.232-2A>C , LRG_839t1:c.232-2A>C NP_000243.1:n.232-2A>C
XM_005274687.2:c.232-2A>C XP_005274744.1:n.232-2A>C
XM_011531170.1:c.298-2A>C XP_011529472.1:n.298-2A>C
XM_011531171.1:c.277-2A>C XP_011529473.1:n.277-2A>C
XM_011531172.1:c.277-2A>C XP_011529474.1:n.277-2A>C
XM_011531173.1:c.232-2A>C XP_011529475.1:n.232-2A>C
XM_011531173.2:c.232-2A>C XP_011529475.1:n.232-2A>C
XM_017029547.1:c.277-2A>C XP_016885036.1:n.277-2A>C
XM_017029548.1:c.277-2A>C XP_016885037.1:n.277-2A>C
XM_017029549.1:c.232-2A>C XP_016885038.1:n.232-2A>C
XM_017029550.1:c.232-4451A>C XP_016885039.1:n.232-4451A>C
NM_000252.3:c.232-2A>C MANE Select NP_000243.1:n.232-2A>C
NM_001376906.1:c.232-2A>C NP_001363835.1:n.232-2A>C
NM_001376907.1:c.232-4451A>C NP_001363836.1:n.232-4451A>C
NM_001376908.1:c.232-2A>C NP_001363837.1:n.232-2A>C