Canonical Allele Identifier: CA271735

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657903G>A , CM000685.2:g.150657903G>A	GRCh38
NC_000023.10:g.149826376G>A , CM000685.1:g.149826376G>A	GRCh37
NC_000023.9:g.149577034G>A	NCBI36
NG_008199.1:g.94330G>A , LRG_839:g.94330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*669G>A	ENSP00000509844.1:n.*669G>A
ENST00000685439.1:c.791G>A	ENSP00000508454.1:p.Trp264Ter
ENST00000685944.1:c.1136G>A	ENSP00000509266.1:p.Trp379Ter
ENST00000686212.1:n.738G>A
ENST00000687215.1:c.*891G>A	ENSP00000509706.1:n.*891G>A
ENST00000688152.1:c.*580G>A	ENSP00000509360.1:n.*580G>A
ENST00000688403.1:c.392G>A	ENSP00000508944.1:p.Trp131Ter
ENST00000689314.1:c.1181G>A	ENSP00000510607.1:p.Trp394Ter
ENST00000689694.1:c.1136G>A	ENSP00000508718.1:p.Trp379Ter
ENST00000689810.1:c.*785G>A	ENSP00000510635.1:n.*785G>A
ENST00000690282.1:c.392G>A	ENSP00000509809.1:p.Trp131Ter
ENST00000690351.1:c.*788G>A	ENSP00000509728.1:n.*788G>A
ENST00000691232.1:c.791G>A	ENSP00000509675.1:p.Trp264Ter
ENST00000691482.1:n.2151G>A
ENST00000691686.1:c.1136G>A	ENSP00000509784.1:p.Trp379Ter
ENST00000691851.1:c.1053+8002G>A	ENSP00000510106.1:n.1053+8002G>A
ENST00000692015.1:c.923G>A	ENSP00000510634.1:p.Trp308Ter
ENST00000692638.1:c.*941G>A	ENSP00000509412.1:n.*941G>A
ENST00000692852.1:c.947G>A	ENSP00000510337.1:p.Trp316Ter
ENST00000692915.1:c.*1282G>A	ENSP00000508547.1:n.*1282G>A
ENST00000370396.7:c.1136G>A MANE Select	ENSP00000359423.3:p.Trp379Ter
ENST00000306167.11:n.1003G>A
ENST00000370396.6:c.1136G>A	ENSP00000359423.2:p.Trp379Ter
NM_000252.2:c.1136G>A , LRG_839t1:c.1136G>A	NP_000243.1:p.Trp379Ter
XM_005274687.2:c.1136G>A	XP_005274744.1:p.Trp379Ter
XM_011531170.1:c.1202G>A	XP_011529472.1:p.Trp401Ter
XM_011531171.1:c.1181G>A	XP_011529473.1:p.Trp394Ter
XM_011531172.1:c.1181G>A	XP_011529474.1:p.Trp394Ter
XM_011531173.1:c.1136G>A	XP_011529475.1:p.Trp379Ter
XM_011531173.2:c.1136G>A	XP_011529475.1:p.Trp379Ter
XM_017029547.1:c.1181G>A	XP_016885036.1:p.Trp394Ter
XM_017029548.1:c.1181G>A	XP_016885037.1:p.Trp394Ter
XM_017029549.1:c.1136G>A	XP_016885038.1:p.Trp379Ter
XM_017029550.1:c.1025G>A	XP_016885039.1:p.Trp342Ter
XM_017029551.2:c.392G>A	XP_016885040.1:p.Trp131Ter
NM_000252.3:c.1136G>A MANE Select	NP_000243.1:p.Trp379Ter
NM_001376906.1:c.1136G>A	NP_001363835.1:p.Trp379Ter
NM_001376907.1:c.1025G>A	NP_001363836.1:p.Trp342Ter
NM_001376908.1:c.1136G>A	NP_001363837.1:p.Trp379Ter