Canonical Allele Identifier: CA415023460

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150671561C>A , CM000685.2:g.150671561C>A	GRCh38
NC_000023.10:g.149840034C>A , CM000685.1:g.149840034C>A	GRCh37
NC_000023.9:g.149590692C>A	NCBI36
NG_008199.1:g.107988C>A , LRG_839:g.107988C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000252.3:c.1778C>A MANE Select	NP_000243.1:p.Ser593Ter
ENST00000370396.7:c.1778C>A MANE Select	ENSP00000359423.3:p.Ser593Ter
NM_000252.2:c.1778C>A , LRG_839t1:c.1778C>A	NP_000243.1:p.Ser593Ter
NM_001376906.1:c.1775C>A	NP_001363835.1:p.Ser592Ter
NM_001376907.1:c.1667C>A	NP_001363836.1:p.Ser556Ter
NM_001376908.1:c.1778C>A	NP_001363837.1:p.Ser593Ter
ENST00000306167.11:n.1642C>A
ENST00000370396.6:c.1778C>A	ENSP00000359423.2:p.Ser593Ter
ENST00000684910.1:c.*1311C>A	ENSP00000509844.1:n.*1311C>A
ENST00000685439.1:c.1433C>A	ENSP00000508454.1:p.Ser478Ter
ENST00000685944.1:c.1778C>A	ENSP00000509266.1:p.Ser593Ter
ENST00000686212.1:n.1380C>A
ENST00000687215.1:c.*1533C>A	ENSP00000509706.1:n.*1533C>A
ENST00000688152.1:c.*1222C>A	ENSP00000509360.1:n.*1222C>A
ENST00000688403.1:c.1034C>A	ENSP00000508944.1:p.Ser345Ter
ENST00000689314.1:c.1823C>A	ENSP00000510607.1:p.Ser608Ter
ENST00000689694.1:c.1778C>A	ENSP00000508718.1:p.Ser593Ter
ENST00000689810.1:c.*1427C>A	ENSP00000510635.1:n.*1427C>A
ENST00000690282.1:c.1034C>A	ENSP00000509809.1:p.Ser345Ter
ENST00000690351.1:c.*1430C>A	ENSP00000509728.1:n.*1430C>A
ENST00000691232.1:c.1433C>A	ENSP00000509675.1:p.Ser478Ter
ENST00000691482.1:n.5741C>A
ENST00000691686.1:c.1685C>A	ENSP00000509784.1:p.Ser562Ter
ENST00000691851.1:c.1187C>A	ENSP00000510106.1:p.Ser396Ter
ENST00000692015.1:c.1565C>A	ENSP00000510634.1:p.Ser522Ter
ENST00000692638.1:c.*1576C>A	ENSP00000509412.1:n.*1576C>A
ENST00000692852.1:c.1589C>A	ENSP00000510337.1:p.Ser530Ter
ENST00000692915.1:c.*1924C>A	ENSP00000508547.1:n.*1924C>A
XM_005274687.2:c.1778C>A	XP_005274744.1:p.Ser593Ter
XM_011531170.1:c.1841C>A	XP_011529472.1:p.Ser614Ter
XM_011531171.1:c.1823C>A	XP_011529473.1:p.Ser608Ter
XM_011531172.1:c.1823C>A	XP_011529474.1:p.Ser608Ter
XM_011531173.1:c.1778C>A	XP_011529475.1:p.Ser593Ter
XM_011531173.2:c.1778C>A	XP_011529475.1:p.Ser593Ter
XM_017029547.1:c.1820C>A	XP_016885036.1:p.Ser607Ter
XM_017029548.1:c.1823C>A	XP_016885037.1:p.Ser608Ter
XM_017029549.1:c.1775C>A	XP_016885038.1:p.Ser592Ter
XM_017029550.1:c.1667C>A	XP_016885039.1:p.Ser556Ter
XM_017029551.2:c.1034C>A	XP_016885040.1:p.Ser345Ter