Canonical Allele Identifier: CA10539328

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150671576A>G , CM000685.2:g.150671576A>G	GRCh38
NC_000023.10:g.149840049A>G , CM000685.1:g.149840049A>G	GRCh37
NC_000023.9:g.149590707A>G	NCBI36
NG_008199.1:g.108003A>G , LRG_839:g.108003A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000252.3:c.1793A>G MANE Select	NP_000243.1:p.His598Arg
ENST00000370396.7:c.1793A>G MANE Select	ENSP00000359423.3:p.His598Arg
NM_000252.2:c.1793A>G , LRG_839t1:c.1793A>G	NP_000243.1:p.His598Arg
NM_001376906.1:c.1790A>G	NP_001363835.1:p.His597Arg
NM_001376907.1:c.1682A>G	NP_001363836.1:p.His561Arg
NM_001376908.1:c.1793A>G	NP_001363837.1:p.His598Arg
ENST00000306167.11:n.1657A>G
ENST00000370396.6:c.1793A>G	ENSP00000359423.2:p.His598Arg
ENST00000684910.1:c.*1326A>G	ENSP00000509844.1:n.*1326A>G
ENST00000685439.1:c.1448A>G	ENSP00000508454.1:p.His483Arg
ENST00000685944.1:c.1793A>G	ENSP00000509266.1:p.His598Arg
ENST00000686212.1:n.1395A>G
ENST00000687215.1:c.*1548A>G	ENSP00000509706.1:n.*1548A>G
ENST00000688152.1:c.*1237A>G	ENSP00000509360.1:n.*1237A>G
ENST00000688403.1:c.1049A>G	ENSP00000508944.1:p.His350Arg
ENST00000689314.1:c.1838A>G	ENSP00000510607.1:p.His613Arg
ENST00000689694.1:c.1793A>G	ENSP00000508718.1:p.His598Arg
ENST00000689810.1:c.*1442A>G	ENSP00000510635.1:n.*1442A>G
ENST00000690282.1:c.1049A>G	ENSP00000509809.1:p.His350Arg
ENST00000690351.1:c.*1445A>G	ENSP00000509728.1:n.*1445A>G
ENST00000691232.1:c.1448A>G	ENSP00000509675.1:p.His483Arg
ENST00000691482.1:n.5756A>G
ENST00000691686.1:c.1700A>G	ENSP00000509784.1:p.His567Arg
ENST00000691851.1:c.1202A>G	ENSP00000510106.1:p.His401Arg
ENST00000692015.1:c.1580A>G	ENSP00000510634.1:p.His527Arg
ENST00000692638.1:c.*1591A>G	ENSP00000509412.1:n.*1591A>G
ENST00000692852.1:c.1604A>G	ENSP00000510337.1:p.His535Arg
ENST00000692915.1:c.*1939A>G	ENSP00000508547.1:n.*1939A>G
XM_005274687.2:c.1793A>G	XP_005274744.1:p.His598Arg
XM_011531170.1:c.1856A>G	XP_011529472.1:p.His619Arg
XM_011531171.1:c.1838A>G	XP_011529473.1:p.His613Arg
XM_011531172.1:c.1838A>G	XP_011529474.1:p.His613Arg
XM_011531173.1:c.1793A>G	XP_011529475.1:p.His598Arg
XM_011531173.2:c.1793A>G	XP_011529475.1:p.His598Arg
XM_017029547.1:c.1835A>G	XP_016885036.1:p.His612Arg
XM_017029548.1:c.1838A>G	XP_016885037.1:p.His613Arg
XM_017029549.1:c.1790A>G	XP_016885038.1:p.His597Arg
XM_017029550.1:c.1682A>G	XP_016885039.1:p.His561Arg
XM_017029551.2:c.1049A>G	XP_016885040.1:p.His350Arg