Canonical Allele Identifier: CA271909

Gene: MTM1

Linked Data

• ClinVar Variation Id: 158987
• ClinVar RCV Id: RCV000146466 ; RCV001564887
• dbSNP Id: rs587783841
• COSMIC: COSM5534740
• MyVariant Identifiers: chrX:g.149809827C>T (hg19) ; chrX:g.150641354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641354C>T , CM000685.2:g.150641354C>T	GRCh38
NC_000023.10:g.149809827C>T , CM000685.1:g.149809827C>T	GRCh37
NC_000023.9:g.149560485C>T	NCBI36
NG_008199.1:g.77781C>T , LRG_839:g.77781C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*147C>T	ENSP00000509844.1:n.*147C>T
ENST00000685439.1:c.269C>T	ENSP00000508454.1:p.Pro90Leu
ENST00000685944.1:c.614C>T	ENSP00000509266.1:p.Pro205Leu
ENST00000686212.1:n.216C>T
ENST00000687215.1:c.*369C>T	ENSP00000509706.1:n.*369C>T
ENST00000688152.1:c.*58C>T	ENSP00000509360.1:n.*58C>T
ENST00000688403.1:c.-131C>T	ENSP00000508944.1:n.-131C>T
ENST00000689314.1:c.659C>T	ENSP00000510607.1:p.Pro220Leu
ENST00000689694.1:c.614C>T	ENSP00000508718.1:p.Pro205Leu
ENST00000689810.1:c.*263C>T	ENSP00000510635.1:n.*263C>T
ENST00000690282.1:c.-131C>T	ENSP00000509809.1:n.-131C>T
ENST00000690351.1:c.*266C>T	ENSP00000509728.1:n.*266C>T
ENST00000691232.1:c.269C>T	ENSP00000509675.1:p.Pro90Leu
ENST00000691482.1:n.1629C>T
ENST00000691686.1:c.614C>T	ENSP00000509784.1:p.Pro205Leu
ENST00000691851.1:c.614C>T	ENSP00000510106.1:p.Pro205Leu
ENST00000692015.1:c.401C>T	ENSP00000510634.1:p.Pro134Leu
ENST00000692638.1:c.*419C>T	ENSP00000509412.1:n.*419C>T
ENST00000692852.1:c.614C>T	ENSP00000510337.1:p.Pro205Leu
ENST00000692915.1:c.*821C>T	ENSP00000508547.1:n.*821C>T
ENST00000370396.7:c.614C>T MANE Select	ENSP00000359423.3:p.Pro205Leu
ENST00000306167.11:n.481C>T
ENST00000370396.6:c.614C>T	ENSP00000359423.2:p.Pro205Leu
ENST00000490530.1:n.553C>T
NM_000252.2:c.614C>T , LRG_839t1:c.614C>T	NP_000243.1:p.Pro205Leu
XM_005274687.2:c.614C>T	XP_005274744.1:p.Pro205Leu
XM_011531170.1:c.680C>T	XP_011529472.1:p.Pro227Leu
XM_011531171.1:c.659C>T	XP_011529473.1:p.Pro220Leu
XM_011531172.1:c.659C>T	XP_011529474.1:p.Pro220Leu
XM_011531173.1:c.614C>T	XP_011529475.1:p.Pro205Leu
XM_011531173.2:c.614C>T	XP_011529475.1:p.Pro205Leu
XM_017029547.1:c.659C>T	XP_016885036.1:p.Pro220Leu
XM_017029548.1:c.659C>T	XP_016885037.1:p.Pro220Leu
XM_017029549.1:c.614C>T	XP_016885038.1:p.Pro205Leu
XM_017029550.1:c.503C>T	XP_016885039.1:p.Pro168Leu
XM_017029551.2:c.-131C>T	XP_016885040.1:n.-131C>T
NM_000252.3:c.614C>T MANE Select	NP_000243.1:p.Pro205Leu
NM_001376906.1:c.614C>T	NP_001363835.1:p.Pro205Leu
NM_001376907.1:c.503C>T	NP_001363836.1:p.Pro168Leu
NM_001376908.1:c.614C>T	NP_001363837.1:p.Pro205Leu