Canonical Allele Identifier: CA415258981

Gene: MTM1

Linked Data

• gnomAD v4: X-150658023-C-A
• MyVariant Identifiers: chrX:g.149826496C>A (hg19) ; chrX:g.150658023C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150658023C>A , CM000685.2:g.150658023C>A	GRCh38
NC_000023.10:g.149826496C>A , CM000685.1:g.149826496C>A	GRCh37
NC_000023.9:g.149577154C>A	NCBI36
NG_008199.1:g.94450C>A , LRG_839:g.94450C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*789C>A	ENSP00000509844.1:n.*789C>A
ENST00000685439.1:c.911C>A	ENSP00000508454.1:p.Ala304Glu
ENST00000685944.1:c.1256C>A	ENSP00000509266.1:p.Ala419Glu
ENST00000686212.1:n.858C>A
ENST00000687215.1:c.*1011C>A	ENSP00000509706.1:n.*1011C>A
ENST00000688152.1:c.*700C>A	ENSP00000509360.1:n.*700C>A
ENST00000688403.1:c.512C>A	ENSP00000508944.1:p.Ala171Glu
ENST00000689314.1:c.1301C>A	ENSP00000510607.1:p.Ala434Glu
ENST00000689694.1:c.1256C>A	ENSP00000508718.1:p.Ala419Glu
ENST00000689810.1:c.*905C>A	ENSP00000510635.1:n.*905C>A
ENST00000690282.1:c.512C>A	ENSP00000509809.1:p.Ala171Glu
ENST00000690351.1:c.*908C>A	ENSP00000509728.1:n.*908C>A
ENST00000691232.1:c.911C>A	ENSP00000509675.1:p.Ala304Glu
ENST00000691482.1:n.2271C>A
ENST00000691686.1:c.1256C>A	ENSP00000509784.1:p.Ala419Glu
ENST00000691851.1:c.1053+8122C>A	ENSP00000510106.1:n.1053+8122C>A
ENST00000692015.1:c.1043C>A	ENSP00000510634.1:p.Ala348Glu
ENST00000692638.1:c.*1061C>A	ENSP00000509412.1:n.*1061C>A
ENST00000692852.1:c.1067C>A	ENSP00000510337.1:p.Ala356Glu
ENST00000692915.1:c.*1402C>A	ENSP00000508547.1:n.*1402C>A
ENST00000370396.7:c.1256C>A MANE Select	ENSP00000359423.3:p.Ala419Glu
ENST00000306167.11:n.1123C>A
ENST00000370396.6:c.1256C>A	ENSP00000359423.2:p.Ala419Glu
NM_000252.2:c.1256C>A , LRG_839t1:c.1256C>A	NP_000243.1:p.Ala419Glu
XM_005274687.2:c.1256C>A	XP_005274744.1:p.Ala419Glu
XM_011531170.1:c.1322C>A	XP_011529472.1:p.Ala441Glu
XM_011531171.1:c.1301C>A	XP_011529473.1:p.Ala434Glu
XM_011531172.1:c.1301C>A	XP_011529474.1:p.Ala434Glu
XM_011531173.1:c.1256C>A	XP_011529475.1:p.Ala419Glu
XM_011531173.2:c.1256C>A	XP_011529475.1:p.Ala419Glu
XM_017029547.1:c.1301C>A	XP_016885036.1:p.Ala434Glu
XM_017029548.1:c.1301C>A	XP_016885037.1:p.Ala434Glu
XM_017029549.1:c.1256C>A	XP_016885038.1:p.Ala419Glu
XM_017029550.1:c.1145C>A	XP_016885039.1:p.Ala382Glu
XM_017029551.2:c.512C>A	XP_016885040.1:p.Ala171Glu
NM_000252.3:c.1256C>A MANE Select	NP_000243.1:p.Ala419Glu
NM_001376906.1:c.1256C>A	NP_001363835.1:p.Ala419Glu
NM_001376907.1:c.1145C>A	NP_001363836.1:p.Ala382Glu
NM_001376908.1:c.1256C>A	NP_001363837.1:p.Ala419Glu