Canonical Allele Identifier: CA10539137

Gene: MTM1

Linked Data

• ClinVar Variation Id: 2883634
• ClinVar RCV Id: RCV003617748
• dbSNP Id: rs782761570
• ExAC: X:149809853 C / T
• gnomAD v2: X-149809853-C-T
• gnomAD v4: X-150641380-C-T
• COSMIC: COSM4107459
• MyVariant Identifiers: chrX:g.149809853C>T (hg19) ; chrX:g.150641380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641380C>T , CM000685.2:g.150641380C>T	GRCh38
NC_000023.10:g.149809853C>T , CM000685.1:g.149809853C>T	GRCh37
NC_000023.9:g.149560511C>T	NCBI36
NG_008199.1:g.77807C>T , LRG_839:g.77807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*173C>T	ENSP00000509844.1:n.*173C>T
ENST00000685439.1:c.295C>T	ENSP00000508454.1:p.Arg99Trp
ENST00000685944.1:c.640C>T	ENSP00000509266.1:p.Arg214Trp
ENST00000686212.1:n.242C>T
ENST00000687215.1:c.*395C>T	ENSP00000509706.1:n.*395C>T
ENST00000688152.1:c.*84C>T	ENSP00000509360.1:n.*84C>T
ENST00000688403.1:c.-105C>T	ENSP00000508944.1:n.-105C>T
ENST00000689314.1:c.685C>T	ENSP00000510607.1:p.Arg229Trp
ENST00000689694.1:c.640C>T	ENSP00000508718.1:p.Arg214Trp
ENST00000689810.1:c.*289C>T	ENSP00000510635.1:n.*289C>T
ENST00000690282.1:c.-105C>T	ENSP00000509809.1:n.-105C>T
ENST00000690351.1:c.*292C>T	ENSP00000509728.1:n.*292C>T
ENST00000691232.1:c.295C>T	ENSP00000509675.1:p.Arg99Trp
ENST00000691482.1:n.1655C>T
ENST00000691686.1:c.640C>T	ENSP00000509784.1:p.Arg214Trp
ENST00000691851.1:c.640C>T	ENSP00000510106.1:p.Arg214Trp
ENST00000692015.1:c.427C>T	ENSP00000510634.1:p.Arg143Trp
ENST00000692638.1:c.*445C>T	ENSP00000509412.1:n.*445C>T
ENST00000692852.1:c.640C>T	ENSP00000510337.1:p.Arg214Trp
ENST00000692915.1:c.*847C>T	ENSP00000508547.1:n.*847C>T
ENST00000370396.7:c.640C>T MANE Select	ENSP00000359423.3:p.Arg214Trp
ENST00000306167.11:n.507C>T
ENST00000370396.6:c.640C>T	ENSP00000359423.2:p.Arg214Trp
ENST00000490530.1:n.579C>T
NM_000252.2:c.640C>T , LRG_839t1:c.640C>T	NP_000243.1:p.Arg214Trp
XM_005274687.2:c.640C>T	XP_005274744.1:p.Arg214Trp
XM_011531170.1:c.706C>T	XP_011529472.1:p.Arg236Trp
XM_011531171.1:c.685C>T	XP_011529473.1:p.Arg229Trp
XM_011531172.1:c.685C>T	XP_011529474.1:p.Arg229Trp
XM_011531173.1:c.640C>T	XP_011529475.1:p.Arg214Trp
XM_011531173.2:c.640C>T	XP_011529475.1:p.Arg214Trp
XM_017029547.1:c.685C>T	XP_016885036.1:p.Arg229Trp
XM_017029548.1:c.685C>T	XP_016885037.1:p.Arg229Trp
XM_017029549.1:c.640C>T	XP_016885038.1:p.Arg214Trp
XM_017029550.1:c.529C>T	XP_016885039.1:p.Arg177Trp
XM_017029551.2:c.-105C>T	XP_016885040.1:n.-105C>T
NM_000252.3:c.640C>T MANE Select	NP_000243.1:p.Arg214Trp
NM_001376906.1:c.640C>T	NP_001363835.1:p.Arg214Trp
NM_001376907.1:c.529C>T	NP_001363836.1:p.Arg177Trp
NM_001376908.1:c.640C>T	NP_001363837.1:p.Arg214Trp