Canonical Allele Identifier: CA415251388

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150619092A>G , CM000685.2:g.150619092A>G	GRCh38
NC_000023.10:g.149787565A>G , CM000685.1:g.149787565A>G	GRCh37
NC_000023.9:g.149538223A>G	NCBI36
NG_008199.1:g.55519A>G , LRG_839:g.55519A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.137-19851A>G	ENSP00000509844.1:n.137-19851A>G
ENST00000685439.1:c.52A>G	ENSP00000508454.1:p.Met18Val
ENST00000685944.1:c.397A>G	ENSP00000509266.1:p.Met133Val
ENST00000687215.1:c.112A>G	ENSP00000509706.1:p.Met38Val
ENST00000687365.1:n.452A>G
ENST00000688152.1:c.397A>G	ENSP00000509360.1:p.Met133Val
ENST00000688403.1:c.-300-19851A>G	ENSP00000508944.1:n.-300-19851A>G
ENST00000689314.1:c.442A>G	ENSP00000510607.1:p.Met148Val
ENST00000689694.1:c.397A>G	ENSP00000508718.1:p.Met133Val
ENST00000689810.1:c.397A>G	ENSP00000510635.1:p.Met133Val
ENST00000690282.1:c.-300-19851A>G	ENSP00000509809.1:n.-300-19851A>G
ENST00000690351.1:c.191A>G	ENSP00000509728.1:p.Tyr64Cys
ENST00000691232.1:c.52A>G	ENSP00000509675.1:p.Met18Val
ENST00000691686.1:c.397A>G	ENSP00000509784.1:p.Met133Val
ENST00000691851.1:c.397A>G	ENSP00000510106.1:p.Met133Val
ENST00000692015.1:c.232-19851A>G	ENSP00000510634.1:n.232-19851A>G
ENST00000692638.1:c.*146A>G	ENSP00000509412.1:n.*146A>G
ENST00000692852.1:c.397A>G	ENSP00000510337.1:p.Met133Val
ENST00000692915.1:c.*392A>G	ENSP00000508547.1:n.*392A>G
ENST00000370396.7:c.397A>G MANE Select	ENSP00000359423.3:p.Met133Val
ENST00000306167.11:n.264A>G
ENST00000370396.6:c.397A>G	ENSP00000359423.2:p.Met133Val
ENST00000424519.1:c.232-19851A>G	ENSP00000400699.1:n.232-19851A>G
ENST00000490530.1:n.336A>G
NM_000252.2:c.397A>G , LRG_839t1:c.397A>G	NP_000243.1:p.Met133Val
XM_005274687.2:c.397A>G	XP_005274744.1:p.Met133Val
XM_011531170.1:c.463A>G	XP_011529472.1:p.Met155Val
XM_011531171.1:c.442A>G	XP_011529473.1:p.Met148Val
XM_011531172.1:c.442A>G	XP_011529474.1:p.Met148Val
XM_011531173.1:c.397A>G	XP_011529475.1:p.Met133Val
XM_011531173.2:c.397A>G	XP_011529475.1:p.Met133Val
XM_017029547.1:c.442A>G	XP_016885036.1:p.Met148Val
XM_017029548.1:c.442A>G	XP_016885037.1:p.Met148Val
XM_017029549.1:c.397A>G	XP_016885038.1:p.Met133Val
XM_017029550.1:c.286A>G	XP_016885039.1:p.Met96Val
NM_000252.3:c.397A>G MANE Select	NP_000243.1:p.Met133Val
NM_001376906.1:c.397A>G	NP_001363835.1:p.Met133Val
NM_001376907.1:c.286A>G	NP_001363836.1:p.Met96Val
NM_001376908.1:c.397A>G	NP_001363837.1:p.Met133Val