Canonical Allele Identifier: CA271755

Gene: MTM1

Linked Data

• ClinVar Variation Id: 158906
• ClinVar RCV Id: RCV000146385
• dbSNP Id: rs587783764
• MyVariant Identifiers: chrX:g.149826473G>T (hg19) ; chrX:g.150658000G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150658000G>T , CM000685.2:g.150658000G>T	GRCh38
NC_000023.10:g.149826473G>T , CM000685.1:g.149826473G>T	GRCh37
NC_000023.9:g.149577131G>T	NCBI36
NG_008199.1:g.94427G>T , LRG_839:g.94427G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*766G>T	ENSP00000509844.1:n.*766G>T
ENST00000685439.1:c.888G>T	ENSP00000508454.1:p.Trp296Cys
ENST00000685944.1:c.1233G>T	ENSP00000509266.1:p.Trp411Cys
ENST00000686212.1:n.835G>T
ENST00000687215.1:c.*988G>T	ENSP00000509706.1:n.*988G>T
ENST00000688152.1:c.*677G>T	ENSP00000509360.1:n.*677G>T
ENST00000688403.1:c.489G>T	ENSP00000508944.1:p.Trp163Cys
ENST00000689314.1:c.1278G>T	ENSP00000510607.1:p.Trp426Cys
ENST00000689694.1:c.1233G>T	ENSP00000508718.1:p.Trp411Cys
ENST00000689810.1:c.*882G>T	ENSP00000510635.1:n.*882G>T
ENST00000690282.1:c.489G>T	ENSP00000509809.1:p.Trp163Cys
ENST00000690351.1:c.*885G>T	ENSP00000509728.1:n.*885G>T
ENST00000691232.1:c.888G>T	ENSP00000509675.1:p.Trp296Cys
ENST00000691482.1:n.2248G>T
ENST00000691686.1:c.1233G>T	ENSP00000509784.1:p.Trp411Cys
ENST00000691851.1:c.1053+8099G>T	ENSP00000510106.1:n.1053+8099G>T
ENST00000692015.1:c.1020G>T	ENSP00000510634.1:p.Trp340Cys
ENST00000692638.1:c.*1038G>T	ENSP00000509412.1:n.*1038G>T
ENST00000692852.1:c.1044G>T	ENSP00000510337.1:p.Trp348Cys
ENST00000692915.1:c.*1379G>T	ENSP00000508547.1:n.*1379G>T
ENST00000370396.7:c.1233G>T MANE Select	ENSP00000359423.3:p.Trp411Cys
ENST00000306167.11:n.1100G>T
ENST00000370396.6:c.1233G>T	ENSP00000359423.2:p.Trp411Cys
NM_000252.2:c.1233G>T , LRG_839t1:c.1233G>T	NP_000243.1:p.Trp411Cys
XM_005274687.2:c.1233G>T	XP_005274744.1:p.Trp411Cys
XM_011531170.1:c.1299G>T	XP_011529472.1:p.Trp433Cys
XM_011531171.1:c.1278G>T	XP_011529473.1:p.Trp426Cys
XM_011531172.1:c.1278G>T	XP_011529474.1:p.Trp426Cys
XM_011531173.1:c.1233G>T	XP_011529475.1:p.Trp411Cys
XM_011531173.2:c.1233G>T	XP_011529475.1:p.Trp411Cys
XM_017029547.1:c.1278G>T	XP_016885036.1:p.Trp426Cys
XM_017029548.1:c.1278G>T	XP_016885037.1:p.Trp426Cys
XM_017029549.1:c.1233G>T	XP_016885038.1:p.Trp411Cys
XM_017029550.1:c.1122G>T	XP_016885039.1:p.Trp374Cys
XM_017029551.2:c.489G>T	XP_016885040.1:p.Trp163Cys
NM_000252.3:c.1233G>T MANE Select	NP_000243.1:p.Trp411Cys
NM_001376906.1:c.1233G>T	NP_001363835.1:p.Trp411Cys
NM_001376907.1:c.1122G>T	NP_001363836.1:p.Trp374Cys
NM_001376908.1:c.1233G>T	NP_001363837.1:p.Trp411Cys