Canonical Allele Identifier: CA271755
Gene: MTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 158906
ClinVar RCV Id: RCV000146385
dbSNP Id: rs587783764

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150658000G>T , CM000685.2:g.150658000G>T GRCh38
NC_000023.10:g.149826473G>T , CM000685.1:g.149826473G>T GRCh37
NC_000023.9:g.149577131G>T NCBI36
NG_008199.1:g.94427G>T , LRG_839:g.94427G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370396.7:c.1233G>T MANE Select ENSP00000359423.3:p.Trp411Cys
ENST00000306167.11:n.1100G>T
ENST00000370396.6:c.1233G>T ENSP00000359423.2:p.Trp411Cys
NM_000252.2:c.1233G>T , LRG_839t1:c.1233G>T NP_000243.1:p.Trp411Cys
XM_005274687.2:c.1233G>T XP_005274744.1:p.Trp411Cys
XM_011531170.1:c.1299G>T XP_011529472.1:p.Trp433Cys
XM_011531171.1:c.1278G>T XP_011529473.1:p.Trp426Cys
XM_011531172.1:c.1278G>T XP_011529474.1:p.Trp426Cys
XM_011531173.1:c.1233G>T XP_011529475.1:p.Trp411Cys
XM_011531173.2:c.1233G>T XP_011529475.1:p.Trp411Cys
XM_017029547.1:c.1278G>T XP_016885036.1:p.Trp426Cys
XM_017029548.1:c.1278G>T XP_016885037.1:p.Trp426Cys
XM_017029549.1:c.1233G>T XP_016885038.1:p.Trp411Cys
XM_017029550.1:c.1122G>T XP_016885039.1:p.Trp374Cys
XM_017029551.2:c.489G>T XP_016885040.1:p.Trp163Cys
NM_000252.3:c.1233G>T MANE Select NP_000243.1:p.Trp411Cys
NM_001376906.1:c.1233G>T NP_001363835.1:p.Trp411Cys
NM_001376907.1:c.1122G>T NP_001363836.1:p.Trp374Cys
NM_001376908.1:c.1233G>T NP_001363837.1:p.Trp411Cys