Canonical Allele Identifier: CA271742

Gene: MTM1

Linked Data

• ClinVar Variation Id: 158901
• ClinVar RCV Id: RCV000146380
• dbSNP Id: rs587783759
• MyVariant Identifiers: chrX:g.149826400C>A (hg19) ; chrX:g.150657927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657927C>A , CM000685.2:g.150657927C>A	GRCh38
NC_000023.10:g.149826400C>A , CM000685.1:g.149826400C>A	GRCh37
NC_000023.9:g.149577058C>A	NCBI36
NG_008199.1:g.94354C>A , LRG_839:g.94354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*693C>A	ENSP00000509844.1:n.*693C>A
ENST00000685439.1:c.815C>A	ENSP00000508454.1:p.Ser272Tyr
ENST00000685944.1:c.1160C>A	ENSP00000509266.1:p.Ser387Tyr
ENST00000686212.1:n.762C>A
ENST00000687215.1:c.*915C>A	ENSP00000509706.1:n.*915C>A
ENST00000688152.1:c.*604C>A	ENSP00000509360.1:n.*604C>A
ENST00000688403.1:c.416C>A	ENSP00000508944.1:p.Ser139Tyr
ENST00000689314.1:c.1205C>A	ENSP00000510607.1:p.Ser402Tyr
ENST00000689694.1:c.1160C>A	ENSP00000508718.1:p.Ser387Tyr
ENST00000689810.1:c.*809C>A	ENSP00000510635.1:n.*809C>A
ENST00000690282.1:c.416C>A	ENSP00000509809.1:p.Ser139Tyr
ENST00000690351.1:c.*812C>A	ENSP00000509728.1:n.*812C>A
ENST00000691232.1:c.815C>A	ENSP00000509675.1:p.Ser272Tyr
ENST00000691482.1:n.2175C>A
ENST00000691686.1:c.1160C>A	ENSP00000509784.1:p.Ser387Tyr
ENST00000691851.1:c.1053+8026C>A	ENSP00000510106.1:n.1053+8026C>A
ENST00000692015.1:c.947C>A	ENSP00000510634.1:p.Ser316Tyr
ENST00000692638.1:c.*965C>A	ENSP00000509412.1:n.*965C>A
ENST00000692852.1:c.971C>A	ENSP00000510337.1:p.Ser324Tyr
ENST00000692915.1:c.*1306C>A	ENSP00000508547.1:n.*1306C>A
ENST00000370396.7:c.1160C>A MANE Select	ENSP00000359423.3:p.Ser387Tyr
ENST00000306167.11:n.1027C>A
ENST00000370396.6:c.1160C>A	ENSP00000359423.2:p.Ser387Tyr
NM_000252.2:c.1160C>A , LRG_839t1:c.1160C>A	NP_000243.1:p.Ser387Tyr
XM_005274687.2:c.1160C>A	XP_005274744.1:p.Ser387Tyr
XM_011531170.1:c.1226C>A	XP_011529472.1:p.Ser409Tyr
XM_011531171.1:c.1205C>A	XP_011529473.1:p.Ser402Tyr
XM_011531172.1:c.1205C>A	XP_011529474.1:p.Ser402Tyr
XM_011531173.1:c.1160C>A	XP_011529475.1:p.Ser387Tyr
XM_011531173.2:c.1160C>A	XP_011529475.1:p.Ser387Tyr
XM_017029547.1:c.1205C>A	XP_016885036.1:p.Ser402Tyr
XM_017029548.1:c.1205C>A	XP_016885037.1:p.Ser402Tyr
XM_017029549.1:c.1160C>A	XP_016885038.1:p.Ser387Tyr
XM_017029550.1:c.1049C>A	XP_016885039.1:p.Ser350Tyr
XM_017029551.2:c.416C>A	XP_016885040.1:p.Ser139Tyr
NM_000252.3:c.1160C>A MANE Select	NP_000243.1:p.Ser387Tyr
NM_001376906.1:c.1160C>A	NP_001363835.1:p.Ser387Tyr
NM_001376907.1:c.1049C>A	NP_001363836.1:p.Ser350Tyr
NM_001376908.1:c.1160C>A	NP_001363837.1:p.Ser387Tyr