Canonical Allele Identifier: CA271810

Gene: MTM1

Linked Data

• ClinVar Variation Id: 158932
• ClinVar RCV Id: RCV000146411
• dbSNP Id: rs587783789
• MyVariant Identifiers: chrX:g.149828896A>G (hg19) ; chrX:g.150660423A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150660423A>G , CM000685.2:g.150660423A>G	GRCh38
NC_000023.10:g.149828896A>G , CM000685.1:g.149828896A>G	GRCh37
NC_000023.9:g.149579554A>G	NCBI36
NG_008199.1:g.96850A>G , LRG_839:g.96850A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*939A>G	ENSP00000509844.1:n.*939A>G
ENST00000685439.1:c.1061A>G	ENSP00000508454.1:p.His354Arg
ENST00000685944.1:c.1406A>G	ENSP00000509266.1:p.His469Arg
ENST00000686212.1:n.1008A>G
ENST00000687215.1:c.*1161A>G	ENSP00000509706.1:n.*1161A>G
ENST00000688152.1:c.*850A>G	ENSP00000509360.1:n.*850A>G
ENST00000688403.1:c.662A>G	ENSP00000508944.1:p.His221Arg
ENST00000689314.1:c.1451A>G	ENSP00000510607.1:p.His484Arg
ENST00000689694.1:c.1406A>G	ENSP00000508718.1:p.His469Arg
ENST00000689810.1:c.*1055A>G	ENSP00000510635.1:n.*1055A>G
ENST00000690282.1:c.662A>G	ENSP00000509809.1:p.His221Arg
ENST00000690351.1:c.*1058A>G	ENSP00000509728.1:n.*1058A>G
ENST00000691232.1:c.1061A>G	ENSP00000509675.1:p.His354Arg
ENST00000691482.1:n.2421A>G
ENST00000691686.1:c.1313A>G	ENSP00000509784.1:p.His438Arg
ENST00000691851.1:c.1053+10522A>G	ENSP00000510106.1:n.1053+10522A>G
ENST00000692015.1:c.1193A>G	ENSP00000510634.1:p.His398Arg
ENST00000692638.1:c.*1204A>G	ENSP00000509412.1:n.*1204A>G
ENST00000692852.1:c.1217A>G	ENSP00000510337.1:p.His406Arg
ENST00000692915.1:c.*1552A>G	ENSP00000508547.1:n.*1552A>G
ENST00000370396.7:c.1406A>G MANE Select	ENSP00000359423.3:p.His469Arg
ENST00000306167.11:n.1273A>G
ENST00000370396.6:c.1406A>G	ENSP00000359423.2:p.His469Arg
NM_000252.2:c.1406A>G , LRG_839t1:c.1406A>G	NP_000243.1:p.His469Arg
XM_005274687.2:c.1406A>G	XP_005274744.1:p.His469Arg
XM_011531170.1:c.1472A>G	XP_011529472.1:p.His491Arg
XM_011531171.1:c.1451A>G	XP_011529473.1:p.His484Arg
XM_011531172.1:c.1451A>G	XP_011529474.1:p.His484Arg
XM_011531173.1:c.1406A>G	XP_011529475.1:p.His469Arg
XM_011531173.2:c.1406A>G	XP_011529475.1:p.His469Arg
XM_017029547.1:c.1451A>G	XP_016885036.1:p.His484Arg
XM_017029548.1:c.1451A>G	XP_016885037.1:p.His484Arg
XM_017029549.1:c.1406A>G	XP_016885038.1:p.His469Arg
XM_017029550.1:c.1295A>G	XP_016885039.1:p.His432Arg
XM_017029551.2:c.662A>G	XP_016885040.1:p.His221Arg
NM_000252.3:c.1406A>G MANE Select	NP_000243.1:p.His469Arg
NM_001376906.1:c.1406A>G	NP_001363835.1:p.His469Arg
NM_001376907.1:c.1295A>G	NP_001363836.1:p.His432Arg
NM_001376908.1:c.1406A>G	NP_001363837.1:p.His469Arg