Canonical Allele Identifier: CA415251314

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150619083A>T , CM000685.2:g.150619083A>T	GRCh38
NC_000023.10:g.149787556A>T , CM000685.1:g.149787556A>T	GRCh37
NC_000023.9:g.149538214A>T	NCBI36
NG_008199.1:g.55510A>T , LRG_839:g.55510A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000252.3:c.388A>T MANE Select	NP_000243.1:p.Arg130Ter
ENST00000370396.7:c.388A>T MANE Select	ENSP00000359423.3:p.Arg130Ter
NM_000252.2:c.388A>T , LRG_839t1:c.388A>T	NP_000243.1:p.Arg130Ter
NM_001376906.1:c.388A>T	NP_001363835.1:p.Arg130Ter
NM_001376907.1:c.277A>T	NP_001363836.1:p.Arg93Ter
NM_001376908.1:c.388A>T	NP_001363837.1:p.Arg130Ter
ENST00000306167.11:n.260-5A>T
ENST00000370396.6:c.388A>T	ENSP00000359423.2:p.Arg130Ter
ENST00000424519.1:c.232-19860A>T	ENSP00000400699.1:n.232-19860A>T
ENST00000490530.1:n.327A>T
ENST00000684910.1:c.137-19860A>T	ENSP00000509844.1:n.137-19860A>T
ENST00000685439.1:c.43A>T	ENSP00000508454.1:p.Arg15Ter
ENST00000685944.1:c.388A>T	ENSP00000509266.1:p.Arg130Ter
ENST00000687215.1:c.103A>T	ENSP00000509706.1:p.Arg35Ter
ENST00000687365.1:n.443A>T
ENST00000688152.1:c.388A>T	ENSP00000509360.1:p.Arg130Ter
ENST00000688403.1:c.-300-19860A>T	ENSP00000508944.1:n.-300-19860A>T
ENST00000689314.1:c.433A>T	ENSP00000510607.1:p.Arg145Ter
ENST00000689694.1:c.388A>T	ENSP00000508718.1:p.Arg130Ter
ENST00000689810.1:c.388A>T	ENSP00000510635.1:p.Arg130Ter
ENST00000690282.1:c.-300-19860A>T	ENSP00000509809.1:n.-300-19860A>T
ENST00000690351.1:c.182A>T	ENSP00000509728.1:p.Gln61Leu
ENST00000691232.1:c.43A>T	ENSP00000509675.1:p.Arg15Ter
ENST00000691686.1:c.388A>T	ENSP00000509784.1:p.Arg130Ter
ENST00000691851.1:c.388A>T	ENSP00000510106.1:p.Arg130Ter
ENST00000692015.1:c.232-19860A>T	ENSP00000510634.1:n.232-19860A>T
ENST00000692638.1:c.*137A>T	ENSP00000509412.1:n.*137A>T
ENST00000692852.1:c.388A>T	ENSP00000510337.1:p.Arg130Ter
ENST00000692915.1:c.*383A>T	ENSP00000508547.1:n.*383A>T
XM_005274687.2:c.388A>T	XP_005274744.1:p.Arg130Ter
XM_011531170.1:c.454A>T	XP_011529472.1:p.Arg152Ter
XM_011531171.1:c.433A>T	XP_011529473.1:p.Arg145Ter
XM_011531172.1:c.433A>T	XP_011529474.1:p.Arg145Ter
XM_011531173.1:c.388A>T	XP_011529475.1:p.Arg130Ter
XM_011531173.2:c.388A>T	XP_011529475.1:p.Arg130Ter
XM_017029547.1:c.433A>T	XP_016885036.1:p.Arg145Ter
XM_017029548.1:c.433A>T	XP_016885037.1:p.Arg145Ter
XM_017029549.1:c.388A>T	XP_016885038.1:p.Arg130Ter
XM_017029550.1:c.277A>T	XP_016885039.1:p.Arg93Ter