Canonical Allele Identifier: CA519114717

Gene: MTM1

Linked Data

• ClinVar Variation Id: 1666172
• ClinVar RCV Id: RCV002203380
• dbSNP Id: rs2148508923
• MyVariant Identifiers: chrX:g.149826485A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150658012A>G , CM000685.2:g.150658012A>G	GRCh38
NC_000023.10:g.149826485A>G , CM000685.1:g.149826485A>G	GRCh37
NC_000023.9:g.149577143A>G	NCBI36
NG_008199.1:g.94439A>G , LRG_839:g.94439A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*778A>G	ENSP00000509844.1:n.*778A>G
ENST00000685439.1:c.900A>G	ENSP00000508454.1:p.Gly300=
ENST00000685944.1:c.1245A>G	ENSP00000509266.1:p.Gly415=
ENST00000686212.1:n.847A>G
ENST00000687215.1:c.*1000A>G	ENSP00000509706.1:n.*1000A>G
ENST00000688152.1:c.*689A>G	ENSP00000509360.1:n.*689A>G
ENST00000688403.1:c.501A>G	ENSP00000508944.1:p.Gly167=
ENST00000689314.1:c.1290A>G	ENSP00000510607.1:p.Gly430=
ENST00000689694.1:c.1245A>G	ENSP00000508718.1:p.Gly415=
ENST00000689810.1:c.*894A>G	ENSP00000510635.1:n.*894A>G
ENST00000690282.1:c.501A>G	ENSP00000509809.1:p.Gly167=
ENST00000690351.1:c.*897A>G	ENSP00000509728.1:n.*897A>G
ENST00000691232.1:c.900A>G	ENSP00000509675.1:p.Gly300=
ENST00000691482.1:n.2260A>G
ENST00000691686.1:c.1245A>G	ENSP00000509784.1:p.Gly415=
ENST00000691851.1:c.1053+8111A>G	ENSP00000510106.1:n.1053+8111A>G
ENST00000692015.1:c.1032A>G	ENSP00000510634.1:p.Gly344=
ENST00000692638.1:c.*1050A>G	ENSP00000509412.1:n.*1050A>G
ENST00000692852.1:c.1056A>G	ENSP00000510337.1:p.Gly352=
ENST00000692915.1:c.*1391A>G	ENSP00000508547.1:n.*1391A>G
ENST00000370396.7:c.1245A>G MANE Select	ENSP00000359423.3:p.Gly415=
ENST00000306167.11:n.1112A>G
ENST00000370396.6:c.1245A>G	ENSP00000359423.2:p.Gly415=
NM_000252.2:c.1245A>G , LRG_839t1:c.1245A>G	NP_000243.1:p.Gly415=
XM_005274687.2:c.1245A>G	XP_005274744.1:p.Gly415=
XM_011531170.1:c.1311A>G	XP_011529472.1:p.Gly437=
XM_011531171.1:c.1290A>G	XP_011529473.1:p.Gly430=
XM_011531172.1:c.1290A>G	XP_011529474.1:p.Gly430=
XM_011531173.1:c.1245A>G	XP_011529475.1:p.Gly415=
XM_011531173.2:c.1245A>G	XP_011529475.1:p.Gly415=
XM_017029547.1:c.1290A>G	XP_016885036.1:p.Gly430=
XM_017029548.1:c.1290A>G	XP_016885037.1:p.Gly430=
XM_017029549.1:c.1245A>G	XP_016885038.1:p.Gly415=
XM_017029550.1:c.1134A>G	XP_016885039.1:p.Gly378=
XM_017029551.2:c.501A>G	XP_016885040.1:p.Gly167=
NM_000252.3:c.1245A>G MANE Select	NP_000243.1:p.Gly415=
NM_001376906.1:c.1245A>G	NP_001363835.1:p.Gly415=
NM_001376907.1:c.1134A>G	NP_001363836.1:p.Gly378=
NM_001376908.1:c.1245A>G	NP_001363837.1:p.Gly415=