Canonical Allele Identifier: CA415256167

Gene: MTM1

Linked Data

• ClinVar Variation Id: 2010714
• ClinVar RCV Id: RCV002834198
• MyVariant Identifiers: chrX:g.149809842A>T (hg19) ; chrX:g.150641369A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641369A>T , CM000685.2:g.150641369A>T	GRCh38
NC_000023.10:g.149809842A>T , CM000685.1:g.149809842A>T	GRCh37
NC_000023.9:g.149560500A>T	NCBI36
NG_008199.1:g.77796A>T , LRG_839:g.77796A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*162A>T	ENSP00000509844.1:n.*162A>T
ENST00000685439.1:c.284A>T	ENSP00000508454.1:p.Asp95Val
ENST00000685944.1:c.629A>T	ENSP00000509266.1:p.Asp210Val
ENST00000686212.1:n.231A>T
ENST00000687215.1:c.*384A>T	ENSP00000509706.1:n.*384A>T
ENST00000688152.1:c.*73A>T	ENSP00000509360.1:n.*73A>T
ENST00000688403.1:c.-116A>T	ENSP00000508944.1:n.-116A>T
ENST00000689314.1:c.674A>T	ENSP00000510607.1:p.Asp225Val
ENST00000689694.1:c.629A>T	ENSP00000508718.1:p.Asp210Val
ENST00000689810.1:c.*278A>T	ENSP00000510635.1:n.*278A>T
ENST00000690282.1:c.-116A>T	ENSP00000509809.1:n.-116A>T
ENST00000690351.1:c.*281A>T	ENSP00000509728.1:n.*281A>T
ENST00000691232.1:c.284A>T	ENSP00000509675.1:p.Asp95Val
ENST00000691482.1:n.1644A>T
ENST00000691686.1:c.629A>T	ENSP00000509784.1:p.Asp210Val
ENST00000691851.1:c.629A>T	ENSP00000510106.1:p.Asp210Val
ENST00000692015.1:c.416A>T	ENSP00000510634.1:p.Asp139Val
ENST00000692638.1:c.*434A>T	ENSP00000509412.1:n.*434A>T
ENST00000692852.1:c.629A>T	ENSP00000510337.1:p.Asp210Val
ENST00000692915.1:c.*836A>T	ENSP00000508547.1:n.*836A>T
ENST00000370396.7:c.629A>T MANE Select	ENSP00000359423.3:p.Asp210Val
ENST00000306167.11:n.496A>T
ENST00000370396.6:c.629A>T	ENSP00000359423.2:p.Asp210Val
ENST00000490530.1:n.568A>T
NM_000252.2:c.629A>T , LRG_839t1:c.629A>T	NP_000243.1:p.Asp210Val
XM_005274687.2:c.629A>T	XP_005274744.1:p.Asp210Val
XM_011531170.1:c.695A>T	XP_011529472.1:p.Asp232Val
XM_011531171.1:c.674A>T	XP_011529473.1:p.Asp225Val
XM_011531172.1:c.674A>T	XP_011529474.1:p.Asp225Val
XM_011531173.1:c.629A>T	XP_011529475.1:p.Asp210Val
XM_011531173.2:c.629A>T	XP_011529475.1:p.Asp210Val
XM_017029547.1:c.674A>T	XP_016885036.1:p.Asp225Val
XM_017029548.1:c.674A>T	XP_016885037.1:p.Asp225Val
XM_017029549.1:c.629A>T	XP_016885038.1:p.Asp210Val
XM_017029550.1:c.518A>T	XP_016885039.1:p.Asp173Val
XM_017029551.2:c.-116A>T	XP_016885040.1:n.-116A>T
NM_000252.3:c.629A>T MANE Select	NP_000243.1:p.Asp210Val
NM_001376906.1:c.629A>T	NP_001363835.1:p.Asp210Val
NM_001376907.1:c.518A>T	NP_001363836.1:p.Asp173Val
NM_001376908.1:c.629A>T	NP_001363837.1:p.Asp210Val