Canonical Allele Identifier: CA415256229

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809872G>T (hg19) ; chrX:g.150641399G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641399G>T , CM000685.2:g.150641399G>T	GRCh38
NC_000023.10:g.149809872G>T , CM000685.1:g.149809872G>T	GRCh37
NC_000023.9:g.149560530G>T	NCBI36
NG_008199.1:g.77826G>T , LRG_839:g.77826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*192G>T	ENSP00000509844.1:n.*192G>T
ENST00000685439.1:c.314G>T	ENSP00000508454.1:p.Arg105Met
ENST00000685944.1:c.659G>T	ENSP00000509266.1:p.Arg220Met
ENST00000686212.1:n.261G>T
ENST00000687215.1:c.*414G>T	ENSP00000509706.1:n.*414G>T
ENST00000688152.1:c.*103G>T	ENSP00000509360.1:n.*103G>T
ENST00000688403.1:c.-86G>T	ENSP00000508944.1:n.-86G>T
ENST00000689314.1:c.704G>T	ENSP00000510607.1:p.Arg235Met
ENST00000689694.1:c.659G>T	ENSP00000508718.1:p.Arg220Met
ENST00000689810.1:c.*308G>T	ENSP00000510635.1:n.*308G>T
ENST00000690282.1:c.-86G>T	ENSP00000509809.1:n.-86G>T
ENST00000690351.1:c.*311G>T	ENSP00000509728.1:n.*311G>T
ENST00000691232.1:c.314G>T	ENSP00000509675.1:p.Arg105Met
ENST00000691482.1:n.1674G>T
ENST00000691686.1:c.659G>T	ENSP00000509784.1:p.Arg220Met
ENST00000691851.1:c.659G>T	ENSP00000510106.1:p.Arg220Met
ENST00000692015.1:c.446G>T	ENSP00000510634.1:p.Arg149Met
ENST00000692638.1:c.*464G>T	ENSP00000509412.1:n.*464G>T
ENST00000692852.1:c.659G>T	ENSP00000510337.1:p.Arg220Met
ENST00000692915.1:c.*866G>T	ENSP00000508547.1:n.*866G>T
ENST00000370396.7:c.659G>T MANE Select	ENSP00000359423.3:p.Arg220Met
ENST00000306167.11:n.526G>T
ENST00000370396.6:c.659G>T	ENSP00000359423.2:p.Arg220Met
ENST00000490530.1:n.598G>T
NM_000252.2:c.659G>T , LRG_839t1:c.659G>T	NP_000243.1:p.Arg220Met
XM_005274687.2:c.659G>T	XP_005274744.1:p.Arg220Met
XM_011531170.1:c.725G>T	XP_011529472.1:p.Arg242Met
XM_011531171.1:c.704G>T	XP_011529473.1:p.Arg235Met
XM_011531172.1:c.704G>T	XP_011529474.1:p.Arg235Met
XM_011531173.1:c.659G>T	XP_011529475.1:p.Arg220Met
XM_011531173.2:c.659G>T	XP_011529475.1:p.Arg220Met
XM_017029547.1:c.704G>T	XP_016885036.1:p.Arg235Met
XM_017029548.1:c.704G>T	XP_016885037.1:p.Arg235Met
XM_017029549.1:c.659G>T	XP_016885038.1:p.Arg220Met
XM_017029550.1:c.548G>T	XP_016885039.1:p.Arg183Met
XM_017029551.2:c.-86G>T	XP_016885040.1:n.-86G>T
NM_000252.3:c.659G>T MANE Select	NP_000243.1:p.Arg220Met
NM_001376906.1:c.659G>T	NP_001363835.1:p.Arg220Met
NM_001376907.1:c.548G>T	NP_001363836.1:p.Arg183Met
NM_001376908.1:c.659G>T	NP_001363837.1:p.Arg220Met