Canonical Allele Identifier: CA255663
Gene: MTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 11054
ClinVar RCV Id: RCV000011803
dbSNP Id: rs132630303

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150657957A>G , CM000685.2:g.150657957A>G GRCh38
NC_000023.10:g.149826430A>G , CM000685.1:g.149826430A>G GRCh37
NC_000023.9:g.149577088A>G NCBI36
NG_008199.1:g.94384A>G , LRG_839:g.94384A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684910.1:c.*723A>G ENSP00000509844.1:n.*723A>G
ENST00000685439.1:c.845A>G ENSP00000508454.1:p.Tyr282Cys
ENST00000685944.1:c.1190A>G ENSP00000509266.1:p.Tyr397Cys
ENST00000686212.1:n.792A>G
ENST00000687215.1:c.*945A>G ENSP00000509706.1:n.*945A>G
ENST00000688152.1:c.*634A>G ENSP00000509360.1:n.*634A>G
ENST00000688403.1:c.446A>G ENSP00000508944.1:p.Tyr149Cys
ENST00000689314.1:c.1235A>G ENSP00000510607.1:p.Tyr412Cys
ENST00000689694.1:c.1190A>G ENSP00000508718.1:p.Tyr397Cys
ENST00000689810.1:c.*839A>G ENSP00000510635.1:n.*839A>G
ENST00000690282.1:c.446A>G ENSP00000509809.1:p.Tyr149Cys
ENST00000690351.1:c.*842A>G ENSP00000509728.1:n.*842A>G
ENST00000691232.1:c.845A>G ENSP00000509675.1:p.Tyr282Cys
ENST00000691482.1:n.2205A>G
ENST00000691686.1:c.1190A>G ENSP00000509784.1:p.Tyr397Cys
ENST00000691851.1:c.1053+8056A>G ENSP00000510106.1:n.1053+8056A>G
ENST00000692015.1:c.977A>G ENSP00000510634.1:p.Tyr326Cys
ENST00000692638.1:c.*995A>G ENSP00000509412.1:n.*995A>G
ENST00000692852.1:c.1001A>G ENSP00000510337.1:p.Tyr334Cys
ENST00000692915.1:c.*1336A>G ENSP00000508547.1:n.*1336A>G
ENST00000370396.7:c.1190A>G MANE Select ENSP00000359423.3:p.Tyr397Cys
ENST00000306167.11:n.1057A>G
ENST00000370396.6:c.1190A>G ENSP00000359423.2:p.Tyr397Cys
NM_000252.2:c.1190A>G , LRG_839t1:c.1190A>G NP_000243.1:p.Tyr397Cys
XM_005274687.2:c.1190A>G XP_005274744.1:p.Tyr397Cys
XM_011531170.1:c.1256A>G XP_011529472.1:p.Tyr419Cys
XM_011531171.1:c.1235A>G XP_011529473.1:p.Tyr412Cys
XM_011531172.1:c.1235A>G XP_011529474.1:p.Tyr412Cys
XM_011531173.1:c.1190A>G XP_011529475.1:p.Tyr397Cys
XM_011531173.2:c.1190A>G XP_011529475.1:p.Tyr397Cys
XM_017029547.1:c.1235A>G XP_016885036.1:p.Tyr412Cys
XM_017029548.1:c.1235A>G XP_016885037.1:p.Tyr412Cys
XM_017029549.1:c.1190A>G XP_016885038.1:p.Tyr397Cys
XM_017029550.1:c.1079A>G XP_016885039.1:p.Tyr360Cys
XM_017029551.2:c.446A>G XP_016885040.1:p.Tyr149Cys
NM_000252.3:c.1190A>G MANE Select NP_000243.1:p.Tyr397Cys
NM_001376906.1:c.1190A>G NP_001363835.1:p.Tyr397Cys
NM_001376907.1:c.1079A>G NP_001363836.1:p.Tyr360Cys
NM_001376908.1:c.1190A>G NP_001363837.1:p.Tyr397Cys