Canonical Allele Identifier: CA271884

Gene: MTM1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150639012G>T , CM000685.2:g.150639012G>T	GRCh38
NC_000023.10:g.149807485G>T , CM000685.1:g.149807485G>T	GRCh37
NC_000023.9:g.149558143G>T	NCBI36
NG_008199.1:g.75439G>T , LRG_839:g.75439G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*47G>T	ENSP00000509844.1:n.*47G>T
ENST00000685439.1:c.169G>T	ENSP00000508454.1:p.Glu57Ter
ENST00000685944.1:c.514G>T	ENSP00000509266.1:p.Glu172Ter
ENST00000687215.1:c.*269G>T	ENSP00000509706.1:n.*269G>T
ENST00000688152.1:c.514G>T	ENSP00000509360.1:p.Glu172Ter
ENST00000688403.1:c.-231G>T	ENSP00000508944.1:n.-231G>T
ENST00000689314.1:c.559G>T	ENSP00000510607.1:p.Glu187Ter
ENST00000689694.1:c.514G>T	ENSP00000508718.1:p.Glu172Ter
ENST00000689810.1:c.*163G>T	ENSP00000510635.1:n.*163G>T
ENST00000690282.1:c.-231G>T	ENSP00000509809.1:n.-231G>T
ENST00000690351.1:c.*110G>T	ENSP00000509728.1:n.*110G>T
ENST00000691232.1:c.169G>T	ENSP00000509675.1:p.Glu57Ter
ENST00000691686.1:c.514G>T	ENSP00000509784.1:p.Glu172Ter
ENST00000691851.1:c.514G>T	ENSP00000510106.1:p.Glu172Ter
ENST00000692015.1:c.301G>T	ENSP00000510634.1:p.Glu101Ter
ENST00000692638.1:c.*263G>T	ENSP00000509412.1:n.*263G>T
ENST00000692852.1:c.514G>T	ENSP00000510337.1:p.Glu172Ter
ENST00000692915.1:c.*665G>T	ENSP00000508547.1:n.*665G>T
ENST00000370396.7:c.514G>T MANE Select	ENSP00000359423.3:p.Glu172Ter
ENST00000306167.11:n.381G>T
ENST00000370396.6:c.514G>T	ENSP00000359423.2:p.Glu172Ter
ENST00000424519.1:c.301G>T	ENSP00000400699.1:p.Glu101Ter
ENST00000490530.1:n.453G>T
NM_000252.2:c.514G>T , LRG_839t1:c.514G>T	NP_000243.1:p.Glu172Ter
XM_005274687.2:c.514G>T	XP_005274744.1:p.Glu172Ter
XM_011531170.1:c.580G>T	XP_011529472.1:p.Glu194Ter
XM_011531171.1:c.559G>T	XP_011529473.1:p.Glu187Ter
XM_011531172.1:c.559G>T	XP_011529474.1:p.Glu187Ter
XM_011531173.1:c.514G>T	XP_011529475.1:p.Glu172Ter
XM_011531173.2:c.514G>T	XP_011529475.1:p.Glu172Ter
XM_017029547.1:c.559G>T	XP_016885036.1:p.Glu187Ter
XM_017029548.1:c.559G>T	XP_016885037.1:p.Glu187Ter
XM_017029549.1:c.514G>T	XP_016885038.1:p.Glu172Ter
XM_017029550.1:c.403G>T	XP_016885039.1:p.Glu135Ter
XM_017029551.2:c.-231G>T	XP_016885040.1:n.-231G>T
NM_000252.3:c.514G>T MANE Select	NP_000243.1:p.Glu172Ter
NM_001376906.1:c.514G>T	NP_001363835.1:p.Glu172Ter
NM_001376907.1:c.403G>T	NP_001363836.1:p.Glu135Ter
NM_001376908.1:c.514G>T	NP_001363837.1:p.Glu172Ter