Canonical Allele Identifier: CA415256247

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809881A>T (hg19) ; chrX:g.150641408A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641408A>T , CM000685.2:g.150641408A>T	GRCh38
NC_000023.10:g.149809881A>T , CM000685.1:g.149809881A>T	GRCh37
NC_000023.9:g.149560539A>T	NCBI36
NG_008199.1:g.77835A>T , LRG_839:g.77835A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*201A>T	ENSP00000509844.1:n.*201A>T
ENST00000685439.1:c.323A>T	ENSP00000508454.1:p.Asn108Ile
ENST00000685944.1:c.668A>T	ENSP00000509266.1:p.Asn223Ile
ENST00000686212.1:n.270A>T
ENST00000687215.1:c.*423A>T	ENSP00000509706.1:n.*423A>T
ENST00000688152.1:c.*112A>T	ENSP00000509360.1:n.*112A>T
ENST00000688403.1:c.-77A>T	ENSP00000508944.1:n.-77A>T
ENST00000689314.1:c.713A>T	ENSP00000510607.1:p.Asn238Ile
ENST00000689694.1:c.668A>T	ENSP00000508718.1:p.Asn223Ile
ENST00000689810.1:c.*317A>T	ENSP00000510635.1:n.*317A>T
ENST00000690282.1:c.-77A>T	ENSP00000509809.1:n.-77A>T
ENST00000690351.1:c.*320A>T	ENSP00000509728.1:n.*320A>T
ENST00000691232.1:c.323A>T	ENSP00000509675.1:p.Asn108Ile
ENST00000691482.1:n.1683A>T
ENST00000691686.1:c.668A>T	ENSP00000509784.1:p.Asn223Ile
ENST00000691851.1:c.668A>T	ENSP00000510106.1:p.Asn223Ile
ENST00000692015.1:c.455A>T	ENSP00000510634.1:p.Asn152Ile
ENST00000692638.1:c.*473A>T	ENSP00000509412.1:n.*473A>T
ENST00000692852.1:c.668A>T	ENSP00000510337.1:p.Asn223Ile
ENST00000692915.1:c.*875A>T	ENSP00000508547.1:n.*875A>T
ENST00000370396.7:c.668A>T MANE Select	ENSP00000359423.3:p.Asn223Ile
ENST00000306167.11:n.535A>T
ENST00000370396.6:c.668A>T	ENSP00000359423.2:p.Asn223Ile
ENST00000490530.1:n.607A>T
NM_000252.2:c.668A>T , LRG_839t1:c.668A>T	NP_000243.1:p.Asn223Ile
XM_005274687.2:c.668A>T	XP_005274744.1:p.Asn223Ile
XM_011531170.1:c.734A>T	XP_011529472.1:p.Asn245Ile
XM_011531171.1:c.713A>T	XP_011529473.1:p.Asn238Ile
XM_011531172.1:c.713A>T	XP_011529474.1:p.Asn238Ile
XM_011531173.1:c.668A>T	XP_011529475.1:p.Asn223Ile
XM_011531173.2:c.668A>T	XP_011529475.1:p.Asn223Ile
XM_017029547.1:c.713A>T	XP_016885036.1:p.Asn238Ile
XM_017029548.1:c.713A>T	XP_016885037.1:p.Asn238Ile
XM_017029549.1:c.668A>T	XP_016885038.1:p.Asn223Ile
XM_017029550.1:c.557A>T	XP_016885039.1:p.Asn186Ile
XM_017029551.2:c.-77A>T	XP_016885040.1:n.-77A>T
NM_000252.3:c.668A>T MANE Select	NP_000243.1:p.Asn223Ile
NM_001376906.1:c.668A>T	NP_001363835.1:p.Asn223Ile
NM_001376907.1:c.557A>T	NP_001363836.1:p.Asn186Ile
NM_001376908.1:c.668A>T	NP_001363837.1:p.Asn223Ile