Canonical Allele Identifier: CA2695238629

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641336dup , CM000685.2:g.150641336dup	GRCh38
NC_000023.10:g.149809809dup , CM000685.1:g.149809809dup	GRCh37
NC_000023.9:g.149560467dup	NCBI36
NG_008199.1:g.77763dup , LRG_839:g.77763dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*129dup	ENSP00000509844.1:n.*129dup
ENST00000685439.1:c.251dup	ENSP00000508454.1:p.Ala85CysfsTer12
ENST00000685944.1:c.596dup	ENSP00000509266.1:p.Ala200CysfsTer12
ENST00000686212.1:n.198dup
ENST00000687215.1:c.*351dup	ENSP00000509706.1:n.*351dup
ENST00000688152.1:c.*40dup	ENSP00000509360.1:n.*40dup
ENST00000688403.1:c.-149dup	ENSP00000508944.1:n.-149dup
ENST00000689314.1:c.641dup	ENSP00000510607.1:p.Ala215CysfsTer12
ENST00000689694.1:c.596dup	ENSP00000508718.1:p.Ala200CysfsTer12
ENST00000689810.1:c.*245dup	ENSP00000510635.1:n.*245dup
ENST00000690282.1:c.-149dup	ENSP00000509809.1:n.-149dup
ENST00000690351.1:c.*248dup	ENSP00000509728.1:n.*248dup
ENST00000691232.1:c.251dup	ENSP00000509675.1:p.Ala85CysfsTer12
ENST00000691482.1:n.1611dup
ENST00000691686.1:c.596dup	ENSP00000509784.1:p.Ala200CysfsTer12
ENST00000691851.1:c.596dup	ENSP00000510106.1:p.Ala200CysfsTer12
ENST00000692015.1:c.383dup	ENSP00000510634.1:p.Ala129CysfsTer12
ENST00000692638.1:c.*401dup	ENSP00000509412.1:n.*401dup
ENST00000692852.1:c.596dup	ENSP00000510337.1:p.Ala200CysfsTer12
ENST00000692915.1:c.*803dup	ENSP00000508547.1:n.*803dup
ENST00000370396.7:c.596dup MANE Select	ENSP00000359423.3:p.Ala200CysfsTer12
ENST00000306167.11:n.463dup
ENST00000370396.6:c.596dup	ENSP00000359423.2:p.Ala200CysfsTer12
ENST00000490530.1:n.535dup
NM_000252.2:c.596dup , LRG_839t1:c.596dup	NP_000243.1:p.Ala200CysfsTer12
XM_005274687.2:c.596dup	XP_005274744.1:p.Ala200CysfsTer12
XM_011531170.1:c.662dup	XP_011529472.1:p.Ala222CysfsTer12
XM_011531171.1:c.641dup	XP_011529473.1:p.Ala215CysfsTer12
XM_011531172.1:c.641dup	XP_011529474.1:p.Ala215CysfsTer12
XM_011531173.1:c.596dup	XP_011529475.1:p.Ala200CysfsTer12
XM_011531173.2:c.596dup	XP_011529475.1:p.Ala200CysfsTer12
XM_017029547.1:c.641dup	XP_016885036.1:p.Ala215CysfsTer12
XM_017029548.1:c.641dup	XP_016885037.1:p.Ala215CysfsTer12
XM_017029549.1:c.596dup	XP_016885038.1:p.Ala200CysfsTer12
XM_017029550.1:c.485dup	XP_016885039.1:p.Ala163CysfsTer12
XM_017029551.2:c.-149dup	XP_016885040.1:n.-149dup
NM_000252.3:c.596dup MANE Select	NP_000243.1:p.Ala200CysfsTer12
NM_001376906.1:c.596dup	NP_001363835.1:p.Ala200CysfsTer12
NM_001376907.1:c.485dup	NP_001363836.1:p.Ala163CysfsTer12
NM_001376908.1:c.596dup	NP_001363837.1:p.Ala200CysfsTer12