Canonical Allele Identifier: CA415260520

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150663610G>A , CM000685.2:g.150663610G>A	GRCh38
NC_000023.10:g.149832083G>A , CM000685.1:g.149832083G>A	GRCh37
NC_000023.9:g.149582741G>A	NCBI36
NG_008199.1:g.100037G>A , LRG_839:g.100037G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000252.3:c.1644+1G>A MANE Select	NP_000243.1:n.1644+1G>A
ENST00000370396.7:c.1644+1G>A MANE Select	ENSP00000359423.3:n.1644+1G>A
NM_000252.2:c.1644+1G>A , LRG_839t1:c.1644+1G>A	NP_000243.1:n.1644+1G>A
NM_001376906.1:c.1644+1G>A	NP_001363835.1:n.1644+1G>A
NM_001376907.1:c.1533+1G>A	NP_001363836.1:n.1533+1G>A
NM_001376908.1:c.1644+1G>A	NP_001363837.1:n.1644+1G>A
ENST00000306167.11:n.1511+1G>A
ENST00000370396.6:c.1644+1G>A	ENSP00000359423.2:n.1644+1G>A
ENST00000684910.1:c.*1177+1G>A	ENSP00000509844.1:n.*1177+1G>A
ENST00000685439.1:c.1299+1G>A	ENSP00000508454.1:n.1299+1G>A
ENST00000685944.1:c.1644+1G>A	ENSP00000509266.1:n.1644+1G>A
ENST00000686212.1:n.1246+1G>A
ENST00000687215.1:c.*1399+1G>A	ENSP00000509706.1:n.*1399+1G>A
ENST00000688152.1:c.*1088+1G>A	ENSP00000509360.1:n.*1088+1G>A
ENST00000688403.1:c.900+1G>A	ENSP00000508944.1:n.900+1G>A
ENST00000689314.1:c.1689+1G>A	ENSP00000510607.1:n.1689+1G>A
ENST00000689694.1:c.1644+1G>A	ENSP00000508718.1:n.1644+1G>A
ENST00000689810.1:c.*1293+1G>A	ENSP00000510635.1:n.*1293+1G>A
ENST00000690282.1:c.900+1G>A	ENSP00000509809.1:n.900+1G>A
ENST00000690351.1:c.*1296+1G>A	ENSP00000509728.1:n.*1296+1G>A
ENST00000691232.1:c.1299+1G>A	ENSP00000509675.1:n.1299+1G>A
ENST00000691482.1:n.5607+1G>A
ENST00000691686.1:c.1551+1G>A	ENSP00000509784.1:n.1551+1G>A
ENST00000691851.1:c.1054-7818G>A	ENSP00000510106.1:n.1054-7818G>A
ENST00000692015.1:c.1431+1G>A	ENSP00000510634.1:n.1431+1G>A
ENST00000692638.1:c.*1442+1G>A	ENSP00000509412.1:n.*1442+1G>A
ENST00000692852.1:c.1455+1G>A	ENSP00000510337.1:n.1455+1G>A
ENST00000692915.1:c.*1790+1G>A	ENSP00000508547.1:n.*1790+1G>A
XM_005274687.2:c.1644+1G>A	XP_005274744.1:n.1644+1G>A
XM_011531170.1:c.1710+1G>A	XP_011529472.1:n.1710+1G>A
XM_011531171.1:c.1689+1G>A	XP_011529473.1:n.1689+1G>A
XM_011531172.1:c.1689+1G>A	XP_011529474.1:n.1689+1G>A
XM_011531173.1:c.1644+1G>A	XP_011529475.1:n.1644+1G>A
XM_011531173.2:c.1644+1G>A	XP_011529475.1:n.1644+1G>A
XM_017029547.1:c.1689+1G>A	XP_016885036.1:n.1689+1G>A
XM_017029548.1:c.1689+1G>A	XP_016885037.1:n.1689+1G>A
XM_017029549.1:c.1644+1G>A	XP_016885038.1:n.1644+1G>A
XM_017029550.1:c.1533+1G>A	XP_016885039.1:n.1533+1G>A
XM_017029551.2:c.900+1G>A	XP_016885040.1:n.900+1G>A