Canonical Allele Identifier: CA10603604

Gene: MTM1

Linked Data

• ClinVar Variation Id: 280049
• ClinVar RCV Id: RCV000318520
• dbSNP Id: rs886041343
• MyVariant Identifiers: chrX:g.149809806dupA (hg19) ; chrX:g.150641333dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641333dup , CM000685.2:g.150641333dup	GRCh38
NC_000023.10:g.149809806dup , CM000685.1:g.149809806dup	GRCh37
NC_000023.9:g.149560464dup	NCBI36
NG_008199.1:g.77760dup , LRG_839:g.77760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*126dup	ENSP00000509844.1:n.*126dup
ENST00000685439.1:c.248dup	ENSP00000508454.1:p.Tyr83Ter
ENST00000685944.1:c.593dup	ENSP00000509266.1:p.Tyr198Ter
ENST00000686212.1:n.195dup
ENST00000687215.1:c.*348dup	ENSP00000509706.1:n.*348dup
ENST00000688152.1:c.*37dup	ENSP00000509360.1:n.*37dup
ENST00000688403.1:c.-152dup	ENSP00000508944.1:n.-152dup
ENST00000689314.1:c.638dup	ENSP00000510607.1:p.Tyr213Ter
ENST00000689694.1:c.593dup	ENSP00000508718.1:p.Tyr198Ter
ENST00000689810.1:c.*242dup	ENSP00000510635.1:n.*242dup
ENST00000690282.1:c.-152dup	ENSP00000509809.1:n.-152dup
ENST00000690351.1:c.*245dup	ENSP00000509728.1:n.*245dup
ENST00000691232.1:c.248dup	ENSP00000509675.1:p.Tyr83Ter
ENST00000691482.1:n.1608dup
ENST00000691686.1:c.593dup	ENSP00000509784.1:p.Tyr198Ter
ENST00000691851.1:c.593dup	ENSP00000510106.1:p.Tyr198Ter
ENST00000692015.1:c.380dup	ENSP00000510634.1:p.Tyr127Ter
ENST00000692638.1:c.*398dup	ENSP00000509412.1:n.*398dup
ENST00000692852.1:c.593dup	ENSP00000510337.1:p.Tyr198Ter
ENST00000692915.1:c.*800dup	ENSP00000508547.1:n.*800dup
ENST00000370396.7:c.593dup MANE Select	ENSP00000359423.3:p.Tyr198Ter
ENST00000306167.11:n.460dup
ENST00000370396.6:c.593dup	ENSP00000359423.2:p.Tyr198Ter
ENST00000490530.1:n.532dup
NM_000252.2:c.593dup , LRG_839t1:c.593dup	NP_000243.1:p.Tyr198Ter
XM_005274687.2:c.593dup	XP_005274744.1:p.Tyr198Ter
XM_011531170.1:c.659dup	XP_011529472.1:p.Tyr220Ter
XM_011531171.1:c.638dup	XP_011529473.1:p.Tyr213Ter
XM_011531172.1:c.638dup	XP_011529474.1:p.Tyr213Ter
XM_011531173.1:c.593dup	XP_011529475.1:p.Tyr198Ter
XM_011531173.2:c.593dup	XP_011529475.1:p.Tyr198Ter
XM_017029547.1:c.638dup	XP_016885036.1:p.Tyr213Ter
XM_017029548.1:c.638dup	XP_016885037.1:p.Tyr213Ter
XM_017029549.1:c.593dup	XP_016885038.1:p.Tyr198Ter
XM_017029550.1:c.482dup	XP_016885039.1:p.Tyr161Ter
XM_017029551.2:c.-152dup	XP_016885040.1:n.-152dup
NM_000252.3:c.593dup MANE Select	NP_000243.1:p.Tyr198Ter
NM_001376906.1:c.593dup	NP_001363835.1:p.Tyr198Ter
NM_001376907.1:c.482dup	NP_001363836.1:p.Tyr161Ter
NM_001376908.1:c.593dup	NP_001363837.1:p.Tyr198Ter