Canonical Allele Identifier: CA271933
Gene: MTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159001
ClinVar RCV Id: RCV000146481 RCV000578589
dbSNP Id: rs587783854
gnomAD v4: X-150645761-C-T
MyVariant Identifiers: chrX:g.149814234C>T (hg19) chrX:g.150645761C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150645761C>T , CM000685.2:g.150645761C>T GRCh38
NC_000023.10:g.149814234C>T , CM000685.1:g.149814234C>T GRCh37
NC_000023.9:g.149564892C>T NCBI36
NG_008199.1:g.82188C>T , LRG_839:g.82188C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684910.1:c.*290C>T ENSP00000509844.1:n.*290C>T
ENST00000685439.1:c.412C>T ENSP00000508454.1:p.Arg138Ter
ENST00000685944.1:c.757C>T ENSP00000509266.1:p.Arg253Ter
ENST00000686212.1:n.359C>T
ENST00000687215.1:c.*512C>T ENSP00000509706.1:n.*512C>T
ENST00000688152.1:c.*201C>T ENSP00000509360.1:n.*201C>T
ENST00000688403.1:c.13C>T ENSP00000508944.1:p.Arg5Ter
ENST00000689314.1:c.802C>T ENSP00000510607.1:p.Arg268Ter
ENST00000689694.1:c.757C>T ENSP00000508718.1:p.Arg253Ter
ENST00000689810.1:c.*406C>T ENSP00000510635.1:n.*406C>T
ENST00000690282.1:c.13C>T ENSP00000509809.1:p.Arg5Ter
ENST00000690351.1:c.*409C>T ENSP00000509728.1:n.*409C>T
ENST00000691232.1:c.412C>T ENSP00000509675.1:p.Arg138Ter
ENST00000691482.1:n.1772C>T
ENST00000691686.1:c.757C>T ENSP00000509784.1:p.Arg253Ter
ENST00000691851.1:c.757C>T ENSP00000510106.1:p.Arg253Ter
ENST00000692015.1:c.544C>T ENSP00000510634.1:p.Arg182Ter
ENST00000692638.1:c.*562C>T ENSP00000509412.1:n.*562C>T
ENST00000692852.1:c.679-3955C>T ENSP00000510337.1:n.679-3955C>T
ENST00000692915.1:c.*964C>T ENSP00000508547.1:n.*964C>T
ENST00000370396.7:c.757C>T MANE Select ENSP00000359423.3:p.Arg253Ter
ENST00000306167.11:n.624C>T
ENST00000370396.6:c.757C>T ENSP00000359423.2:p.Arg253Ter
ENST00000490530.1:n.696C>T
NM_000252.2:c.757C>T , LRG_839t1:c.757C>T NP_000243.1:p.Arg253Ter
XM_005274687.2:c.757C>T XP_005274744.1:p.Arg253Ter
XM_011531170.1:c.823C>T XP_011529472.1:p.Arg275Ter
XM_011531171.1:c.802C>T XP_011529473.1:p.Arg268Ter
XM_011531172.1:c.802C>T XP_011529474.1:p.Arg268Ter
XM_011531173.1:c.757C>T XP_011529475.1:p.Arg253Ter
XM_011531173.2:c.757C>T XP_011529475.1:p.Arg253Ter
XM_017029547.1:c.802C>T XP_016885036.1:p.Arg268Ter
XM_017029548.1:c.802C>T XP_016885037.1:p.Arg268Ter
XM_017029549.1:c.757C>T XP_016885038.1:p.Arg253Ter
XM_017029550.1:c.646C>T XP_016885039.1:p.Arg216Ter
XM_017029551.2:c.13C>T XP_016885040.1:p.Arg5Ter
NM_000252.3:c.757C>T MANE Select NP_000243.1:p.Arg253Ter
NM_001376906.1:c.757C>T NP_001363835.1:p.Arg253Ter
NM_001376907.1:c.646C>T NP_001363836.1:p.Arg216Ter
NM_001376908.1:c.757C>T NP_001363837.1:p.Arg253Ter
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