Canonical Allele Identifier: CA916082508

Gene: MTM1

Linked Data

• ClinVar Variation Id: 851646
• ClinVar RCV Id: RCV001056079
• dbSNP Id: rs2039846270

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641364del , CM000685.2:g.150641364del	GRCh38
NC_000023.10:g.149809837del , CM000685.1:g.149809837del	GRCh37
NC_000023.9:g.149560495del	NCBI36
NG_008199.1:g.77791del , LRG_839:g.77791del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*157del	ENSP00000509844.1:n.*157del
ENST00000685439.1:c.279del	ENSP00000508454.1:p.Ser94GlnfsTer?
ENST00000685944.1:c.624del	ENSP00000509266.1:p.Ser209GlnfsTer?
ENST00000686212.1:n.226del
ENST00000687215.1:c.*379del	ENSP00000509706.1:n.*379del
ENST00000688152.1:c.*68del	ENSP00000509360.1:n.*68del
ENST00000688403.1:c.-121del	ENSP00000508944.1:n.-121del
ENST00000689314.1:c.669del	ENSP00000510607.1:p.Ser224GlnfsTer?
ENST00000689694.1:c.624del	ENSP00000508718.1:p.Ser209GlnfsTer?
ENST00000689810.1:c.*273del	ENSP00000510635.1:n.*273del
ENST00000690282.1:c.-121del	ENSP00000509809.1:n.-121del
ENST00000690351.1:c.*276del	ENSP00000509728.1:n.*276del
ENST00000691232.1:c.279del	ENSP00000509675.1:p.Ser94GlnfsTer?
ENST00000691482.1:n.1639del
ENST00000691686.1:c.624del	ENSP00000509784.1:p.Ser209GlnfsTer?
ENST00000691851.1:c.624del	ENSP00000510106.1:p.Ser209GlnfsTer?
ENST00000692015.1:c.411del	ENSP00000510634.1:p.Ser138GlnfsTer?
ENST00000692638.1:c.*429del	ENSP00000509412.1:n.*429del
ENST00000692852.1:c.624del	ENSP00000510337.1:p.Ser209GlnfsTer?
ENST00000692915.1:c.*831del	ENSP00000508547.1:n.*831del
ENST00000370396.7:c.624del MANE Select	ENSP00000359423.3:p.Ser209GlnfsTer?
ENST00000306167.11:n.491del
ENST00000370396.6:c.624del	ENSP00000359423.2:p.Ser209GlnfsTer?
ENST00000490530.1:n.563del
NM_000252.2:c.624del , LRG_839t1:c.624del	NP_000243.1:p.Ser209GlnfsTer?
XM_005274687.2:c.624del	XP_005274744.1:p.Ser209GlnfsTer?
XM_011531170.1:c.690del	XP_011529472.1:p.Ser231GlnfsTer?
XM_011531171.1:c.669del	XP_011529473.1:p.Ser224GlnfsTer?
XM_011531172.1:c.669del	XP_011529474.1:p.Ser224GlnfsTer?
XM_011531173.1:c.624del	XP_011529475.1:p.Ser209GlnfsTer?
XM_011531173.2:c.624del	XP_011529475.1:p.Ser209GlnfsTer?
XM_017029547.1:c.669del	XP_016885036.1:p.Ser224GlnfsTer?
XM_017029548.1:c.669del	XP_016885037.1:p.Ser224GlnfsTer?
XM_017029549.1:c.624del	XP_016885038.1:p.Ser209GlnfsTer?
XM_017029550.1:c.513del	XP_016885039.1:p.Ser172GlnfsTer?
XM_017029551.2:c.-121del	XP_016885040.1:n.-121del
NM_000252.3:c.624del MANE Select	NP_000243.1:p.Ser209GlnfsTer?
NM_001376906.1:c.624del	NP_001363835.1:p.Ser209GlnfsTer?
NM_001376907.1:c.513del	NP_001363836.1:p.Ser172GlnfsTer?
NM_001376908.1:c.624del	NP_001363837.1:p.Ser209GlnfsTer?