Canonical Allele Identifier: CA415259283
Community Standard Title: NM_000252.3(MTM1):c.1299C>A (p.Asp433Glu)
Gene: MTM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150659702C>A , CM000685.2:g.150659702C>A GRCh38
NC_000023.10:g.149828175C>A , CM000685.1:g.149828175C>A GRCh37
NC_000023.9:g.149578833C>A NCBI36
NG_008199.1:g.96129C>A , LRG_839:g.96129C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000252.3:c.1299C>A MANE Select NP_000243.1:p.Asp433Glu
ENST00000370396.7:c.1299C>A MANE Select ENSP00000359423.3:p.Asp433Glu
NM_000252.2:c.1299C>A , LRG_839t1:c.1299C>A NP_000243.1:p.Asp433Glu
NM_001376906.1:c.1299C>A NP_001363835.1:p.Asp433Glu
NM_001376907.1:c.1188C>A NP_001363836.1:p.Asp396Glu
NM_001376908.1:c.1299C>A NP_001363837.1:p.Asp433Glu
ENST00000306167.11:n.1166C>A
ENST00000370396.6:c.1299C>A ENSP00000359423.2:p.Asp433Glu
ENST00000684910.1:c.*832C>A ENSP00000509844.1:n.*832C>A
ENST00000685439.1:c.954C>A ENSP00000508454.1:p.Asp318Glu
ENST00000685944.1:c.1299C>A ENSP00000509266.1:p.Asp433Glu
ENST00000686212.1:n.901C>A
ENST00000687215.1:c.*1054C>A ENSP00000509706.1:n.*1054C>A
ENST00000688152.1:c.*743C>A ENSP00000509360.1:n.*743C>A
ENST00000688403.1:c.555C>A ENSP00000508944.1:p.Asp185Glu
ENST00000689314.1:c.1344C>A ENSP00000510607.1:p.Asp448Glu
ENST00000689694.1:c.1299C>A ENSP00000508718.1:p.Asp433Glu
ENST00000689810.1:c.*948C>A ENSP00000510635.1:n.*948C>A
ENST00000690282.1:c.555C>A ENSP00000509809.1:p.Asp185Glu
ENST00000690351.1:c.*951C>A ENSP00000509728.1:n.*951C>A
ENST00000691232.1:c.954C>A ENSP00000509675.1:p.Asp318Glu
ENST00000691482.1:n.2314C>A
ENST00000691686.1:c.1261-669C>A ENSP00000509784.1:n.1261-669C>A
ENST00000691851.1:c.1053+9801C>A ENSP00000510106.1:n.1053+9801C>A
ENST00000692015.1:c.1086C>A ENSP00000510634.1:p.Asp362Glu
ENST00000692638.1:c.*1097C>A ENSP00000509412.1:n.*1097C>A
ENST00000692852.1:c.1110C>A ENSP00000510337.1:p.Asp370Glu
ENST00000692915.1:c.*1445C>A ENSP00000508547.1:n.*1445C>A
XM_005274687.2:c.1299C>A XP_005274744.1:p.Asp433Glu
XM_011531170.1:c.1365C>A XP_011529472.1:p.Asp455Glu
XM_011531171.1:c.1344C>A XP_011529473.1:p.Asp448Glu
XM_011531172.1:c.1344C>A XP_011529474.1:p.Asp448Glu
XM_011531173.1:c.1299C>A XP_011529475.1:p.Asp433Glu
XM_011531173.2:c.1299C>A XP_011529475.1:p.Asp433Glu
XM_017029547.1:c.1344C>A XP_016885036.1:p.Asp448Glu
XM_017029548.1:c.1344C>A XP_016885037.1:p.Asp448Glu
XM_017029549.1:c.1299C>A XP_016885038.1:p.Asp433Glu
XM_017029550.1:c.1188C>A XP_016885039.1:p.Asp396Glu
XM_017029551.2:c.555C>A XP_016885040.1:p.Asp185Glu