Canonical Allele Identifier: CA2465380834

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641322C= , CM000685.2:g.150641322C=	GRCh38
NC_000023.10:g.149809795C= , CM000685.1:g.149809795C=	GRCh37
NC_000023.9:g.149560453C=	NCBI36
NG_008199.1:g.77749C= , LRG_839:g.77749C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*115C=	ENSP00000509844.1:n.*115C=
ENST00000685439.1:c.237C=	ENSP00000508454.1:p.Leu79=
ENST00000685944.1:c.582C=	ENSP00000509266.1:p.Leu194=
ENST00000686212.1:n.184C=
ENST00000687215.1:c.*337C=	ENSP00000509706.1:n.*337C=
ENST00000688152.1:c.*26C=	ENSP00000509360.1:n.*26C=
ENST00000688403.1:c.-163C=	ENSP00000508944.1:n.-163C=
ENST00000689314.1:c.627C=	ENSP00000510607.1:p.Leu209=
ENST00000689694.1:c.582C=	ENSP00000508718.1:p.Leu194=
ENST00000689810.1:c.*231C=	ENSP00000510635.1:n.*231C=
ENST00000690282.1:c.-163C=	ENSP00000509809.1:n.-163C=
ENST00000690351.1:c.*234C=	ENSP00000509728.1:n.*234C=
ENST00000691232.1:c.237C=	ENSP00000509675.1:p.Leu79=
ENST00000691482.1:n.1597C=
ENST00000691686.1:c.582C=	ENSP00000509784.1:p.Leu194=
ENST00000691851.1:c.582C=	ENSP00000510106.1:p.Leu194=
ENST00000692015.1:c.369C=	ENSP00000510634.1:p.Leu123=
ENST00000692638.1:c.*387C=	ENSP00000509412.1:n.*387C=
ENST00000692852.1:c.582C=	ENSP00000510337.1:p.Leu194=
ENST00000692915.1:c.*789C=	ENSP00000508547.1:n.*789C=
ENST00000370396.7:c.582C= MANE Select	ENSP00000359423.3:p.Leu194=
ENST00000306167.11:n.449C=
ENST00000370396.6:c.582C=	ENSP00000359423.2:p.Leu194=
ENST00000490530.1:n.521C=
NM_000252.2:c.582C= , LRG_839t1:c.582C=	NP_000243.1:p.Leu194=
XM_005274687.2:c.582C=	XP_005274744.1:p.Leu194=
XM_011531170.1:c.648C=	XP_011529472.1:p.Leu216=
XM_011531171.1:c.627C=	XP_011529473.1:p.Leu209=
XM_011531172.1:c.627C=	XP_011529474.1:p.Leu209=
XM_011531173.1:c.582C=	XP_011529475.1:p.Leu194=
XM_011531173.2:c.582C=	XP_011529475.1:p.Leu194=
XM_017029547.1:c.627C=	XP_016885036.1:p.Leu209=
XM_017029548.1:c.627C=	XP_016885037.1:p.Leu209=
XM_017029549.1:c.582C=	XP_016885038.1:p.Leu194=
XM_017029550.1:c.471C=	XP_016885039.1:p.Leu157=
XM_017029551.2:c.-163C=	XP_016885040.1:n.-163C=
NM_000252.3:c.582C= MANE Select	NP_000243.1:p.Leu194=
NM_001376906.1:c.582C=	NP_001363835.1:p.Leu194=
NM_001376907.1:c.471C=	NP_001363836.1:p.Leu157=
NM_001376908.1:c.582C=	NP_001363837.1:p.Leu194=