Canonical Allele Identifier: CA220541
Gene: MTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 92677
dbSNP Id: rs398123274

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150645692T>C , CM000685.2:g.150645692T>C GRCh38
NC_000023.10:g.149814165T>C , CM000685.1:g.149814165T>C GRCh37
NC_000023.9:g.149564823T>C NCBI36
NG_008199.1:g.82119T>C , LRG_839:g.82119T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370396.7:c.688T>C MANE Select ENSP00000359423.3:p.Trp230Arg
ENST00000306167.11:n.555T>C
ENST00000370396.6:c.688T>C ENSP00000359423.2:p.Trp230Arg
ENST00000490530.1:n.627T>C
NM_000252.2:c.688T>C , LRG_839t1:c.688T>C NP_000243.1:p.Trp230Arg
XM_005274687.2:c.688T>C XP_005274744.1:p.Trp230Arg
XM_011531170.1:c.754T>C XP_011529472.1:p.Trp252Arg
XM_011531171.1:c.733T>C XP_011529473.1:p.Trp245Arg
XM_011531172.1:c.733T>C XP_011529474.1:p.Trp245Arg
XM_011531173.1:c.688T>C XP_011529475.1:p.Trp230Arg
XM_011531173.2:c.688T>C XP_011529475.1:p.Trp230Arg
XM_017029547.1:c.733T>C XP_016885036.1:p.Trp245Arg
XM_017029548.1:c.733T>C XP_016885037.1:p.Trp245Arg
XM_017029549.1:c.688T>C XP_016885038.1:p.Trp230Arg
XM_017029550.1:c.577T>C XP_016885039.1:p.Trp193Arg
XM_017029551.2:c.-57T>C XP_016885040.1:p.=
NM_000252.3:c.688T>C MANE Select NP_000243.1:p.Trp230Arg
NM_001376906.1:c.688T>C NP_001363835.1:p.Trp230Arg
NM_001376907.1:c.577T>C NP_001363836.1:p.Trp193Arg
NM_001376908.1:c.688T>C NP_001363837.1:p.Trp230Arg