Canonical Allele Identifier: CA271769

Gene: MTM1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150659665G>A , CM000685.2:g.150659665G>A	GRCh38
NC_000023.10:g.149828138G>A , CM000685.1:g.149828138G>A	GRCh37
NC_000023.9:g.149578796G>A	NCBI36
NG_008199.1:g.96092G>A , LRG_839:g.96092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*795G>A	ENSP00000509844.1:n.*795G>A
ENST00000685439.1:c.917G>A	ENSP00000508454.1:p.Arg306Gln
ENST00000685944.1:c.1262G>A	ENSP00000509266.1:p.Arg421Gln
ENST00000686212.1:n.864G>A
ENST00000687215.1:c.*1017G>A	ENSP00000509706.1:n.*1017G>A
ENST00000688152.1:c.*706G>A	ENSP00000509360.1:n.*706G>A
ENST00000688403.1:c.518G>A	ENSP00000508944.1:p.Arg173Gln
ENST00000689314.1:c.1307G>A	ENSP00000510607.1:p.Arg436Gln
ENST00000689694.1:c.1262G>A	ENSP00000508718.1:p.Arg421Gln
ENST00000689810.1:c.*911G>A	ENSP00000510635.1:n.*911G>A
ENST00000690282.1:c.518G>A	ENSP00000509809.1:p.Arg173Gln
ENST00000690351.1:c.*914G>A	ENSP00000509728.1:n.*914G>A
ENST00000691232.1:c.917G>A	ENSP00000509675.1:p.Arg306Gln
ENST00000691482.1:n.2277G>A
ENST00000691686.1:c.1261-706G>A	ENSP00000509784.1:n.1261-706G>A
ENST00000691851.1:c.1053+9764G>A	ENSP00000510106.1:n.1053+9764G>A
ENST00000692015.1:c.1049G>A	ENSP00000510634.1:p.Arg350Gln
ENST00000692638.1:c.*1066-6G>A	ENSP00000509412.1:n.*1066-6G>A
ENST00000692852.1:c.1073G>A	ENSP00000510337.1:p.Arg358Gln
ENST00000692915.1:c.*1408G>A	ENSP00000508547.1:n.*1408G>A
ENST00000370396.7:c.1262G>A MANE Select	ENSP00000359423.3:p.Arg421Gln
ENST00000306167.11:n.1129G>A
ENST00000370396.6:c.1262G>A	ENSP00000359423.2:p.Arg421Gln
NM_000252.2:c.1262G>A , LRG_839t1:c.1262G>A	NP_000243.1:p.Arg421Gln
XM_005274687.2:c.1262G>A	XP_005274744.1:p.Arg421Gln
XM_011531170.1:c.1328G>A	XP_011529472.1:p.Arg443Gln
XM_011531171.1:c.1307G>A	XP_011529473.1:p.Arg436Gln
XM_011531172.1:c.1307G>A	XP_011529474.1:p.Arg436Gln
XM_011531173.1:c.1262G>A	XP_011529475.1:p.Arg421Gln
XM_011531173.2:c.1262G>A	XP_011529475.1:p.Arg421Gln
XM_017029547.1:c.1307G>A	XP_016885036.1:p.Arg436Gln
XM_017029548.1:c.1307G>A	XP_016885037.1:p.Arg436Gln
XM_017029549.1:c.1262G>A	XP_016885038.1:p.Arg421Gln
XM_017029550.1:c.1151G>A	XP_016885039.1:p.Arg384Gln
XM_017029551.2:c.518G>A	XP_016885040.1:p.Arg173Gln
NM_000252.3:c.1262G>A MANE Select	NP_000243.1:p.Arg421Gln
NM_001376906.1:c.1262G>A	NP_001363835.1:p.Arg421Gln
NM_001376907.1:c.1151G>A	NP_001363836.1:p.Arg384Gln
NM_001376908.1:c.1262G>A	NP_001363837.1:p.Arg421Gln