Canonical Allele Identifier: CA271891
Gene: MTM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 158977
ClinVar RCV Id: RCV000146456
dbSNP Id: rs587783831

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.150641267A>G , CM000685.2:g.150641267A>G GRCh38
NC_000023.10:g.149809740A>G , CM000685.1:g.149809740A>G GRCh37
NC_000023.9:g.149560398A>G NCBI36
NG_008199.1:g.77694A>G , LRG_839:g.77694A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000684910.1:c.*62-2A>G ENSP00000509844.1:n.*62-2A>G
ENST00000685439.1:c.184-2A>G ENSP00000508454.1:n.184-2A>G
ENST00000685944.1:c.529-2A>G ENSP00000509266.1:n.529-2A>G
ENST00000686212.1:n.129A>G
ENST00000687215.1:c.*284-2A>G ENSP00000509706.1:n.*284-2A>G
ENST00000688152.1:c.585-2A>G ENSP00000509360.1:n.585-2A>G
ENST00000688403.1:c.-216-2A>G ENSP00000508944.1:n.-216-2A>G
ENST00000689314.1:c.574-2A>G ENSP00000510607.1:n.574-2A>G
ENST00000689694.1:c.529-2A>G ENSP00000508718.1:n.529-2A>G
ENST00000689810.1:c.*178-2A>G ENSP00000510635.1:n.*178-2A>G
ENST00000690282.1:c.-216-2A>G ENSP00000509809.1:n.-216-2A>G
ENST00000690351.1:c.*181-2A>G ENSP00000509728.1:n.*181-2A>G
ENST00000691232.1:c.184-2A>G ENSP00000509675.1:n.184-2A>G
ENST00000691482.1:n.1542A>G
ENST00000691686.1:c.529-2A>G ENSP00000509784.1:n.529-2A>G
ENST00000691851.1:c.529-2A>G ENSP00000510106.1:n.529-2A>G
ENST00000692015.1:c.316-2A>G ENSP00000510634.1:n.316-2A>G
ENST00000692638.1:c.*334-2A>G ENSP00000509412.1:n.*334-2A>G
ENST00000692852.1:c.529-2A>G ENSP00000510337.1:n.529-2A>G
ENST00000692915.1:c.*736-2A>G ENSP00000508547.1:n.*736-2A>G
ENST00000370396.7:c.529-2A>G MANE Select ENSP00000359423.3:n.529-2A>G
ENST00000306167.11:n.396-2A>G
ENST00000370396.6:c.529-2A>G ENSP00000359423.2:n.529-2A>G
ENST00000490530.1:n.468-2A>G
NM_000252.2:c.529-2A>G , LRG_839t1:c.529-2A>G NP_000243.1:n.529-2A>G
XM_005274687.2:c.529-2A>G XP_005274744.1:n.529-2A>G
XM_011531170.1:c.595-2A>G XP_011529472.1:n.595-2A>G
XM_011531171.1:c.574-2A>G XP_011529473.1:n.574-2A>G
XM_011531172.1:c.574-2A>G XP_011529474.1:n.574-2A>G
XM_011531173.1:c.529-2A>G XP_011529475.1:n.529-2A>G
XM_011531173.2:c.529-2A>G XP_011529475.1:n.529-2A>G
XM_017029547.1:c.574-2A>G XP_016885036.1:n.574-2A>G
XM_017029548.1:c.574-2A>G XP_016885037.1:n.574-2A>G
XM_017029549.1:c.529-2A>G XP_016885038.1:n.529-2A>G
XM_017029550.1:c.418-2A>G XP_016885039.1:n.418-2A>G
XM_017029551.2:c.-216-2A>G XP_016885040.1:n.-216-2A>G
NM_000252.3:c.529-2A>G MANE Select NP_000243.1:n.529-2A>G
NM_001376906.1:c.529-2A>G NP_001363835.1:n.529-2A>G
NM_001376907.1:c.418-2A>G NP_001363836.1:n.418-2A>G
NM_001376908.1:c.529-2A>G NP_001363837.1:n.529-2A>G