Canonical Allele Identifier: CA415256390

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149814204A>T (hg19) ; chrX:g.150645731A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645731A>T , CM000685.2:g.150645731A>T	GRCh38
NC_000023.10:g.149814204A>T , CM000685.1:g.149814204A>T	GRCh37
NC_000023.9:g.149564862A>T	NCBI36
NG_008199.1:g.82158A>T , LRG_839:g.82158A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*260A>T	ENSP00000509844.1:n.*260A>T
ENST00000685439.1:c.382A>T	ENSP00000508454.1:p.Ser128Cys
ENST00000685944.1:c.727A>T	ENSP00000509266.1:p.Ser243Cys
ENST00000686212.1:n.329A>T
ENST00000687215.1:c.*482A>T	ENSP00000509706.1:n.*482A>T
ENST00000688152.1:c.*171A>T	ENSP00000509360.1:n.*171A>T
ENST00000688403.1:c.-18A>T	ENSP00000508944.1:n.-18A>T
ENST00000689314.1:c.772A>T	ENSP00000510607.1:p.Ser258Cys
ENST00000689694.1:c.727A>T	ENSP00000508718.1:p.Ser243Cys
ENST00000689810.1:c.*376A>T	ENSP00000510635.1:n.*376A>T
ENST00000690282.1:c.-18A>T	ENSP00000509809.1:n.-18A>T
ENST00000690351.1:c.*379A>T	ENSP00000509728.1:n.*379A>T
ENST00000691232.1:c.382A>T	ENSP00000509675.1:p.Ser128Cys
ENST00000691482.1:n.1742A>T
ENST00000691686.1:c.727A>T	ENSP00000509784.1:p.Ser243Cys
ENST00000691851.1:c.727A>T	ENSP00000510106.1:p.Ser243Cys
ENST00000692015.1:c.514A>T	ENSP00000510634.1:p.Ser172Cys
ENST00000692638.1:c.*532A>T	ENSP00000509412.1:n.*532A>T
ENST00000692852.1:c.679-3985A>T	ENSP00000510337.1:n.679-3985A>T
ENST00000692915.1:c.*934A>T	ENSP00000508547.1:n.*934A>T
ENST00000370396.7:c.727A>T MANE Select	ENSP00000359423.3:p.Ser243Cys
ENST00000306167.11:n.594A>T
ENST00000370396.6:c.727A>T	ENSP00000359423.2:p.Ser243Cys
ENST00000490530.1:n.666A>T
NM_000252.2:c.727A>T , LRG_839t1:c.727A>T	NP_000243.1:p.Ser243Cys
XM_005274687.2:c.727A>T	XP_005274744.1:p.Ser243Cys
XM_011531170.1:c.793A>T	XP_011529472.1:p.Ser265Cys
XM_011531171.1:c.772A>T	XP_011529473.1:p.Ser258Cys
XM_011531172.1:c.772A>T	XP_011529474.1:p.Ser258Cys
XM_011531173.1:c.727A>T	XP_011529475.1:p.Ser243Cys
XM_011531173.2:c.727A>T	XP_011529475.1:p.Ser243Cys
XM_017029547.1:c.772A>T	XP_016885036.1:p.Ser258Cys
XM_017029548.1:c.772A>T	XP_016885037.1:p.Ser258Cys
XM_017029549.1:c.727A>T	XP_016885038.1:p.Ser243Cys
XM_017029550.1:c.616A>T	XP_016885039.1:p.Ser206Cys
XM_017029551.2:c.-18A>T	XP_016885040.1:n.-18A>T
NM_000252.3:c.727A>T MANE Select	NP_000243.1:p.Ser243Cys
NM_001376906.1:c.727A>T	NP_001363835.1:p.Ser243Cys
NM_001376907.1:c.616A>T	NP_001363836.1:p.Ser206Cys
NM_001376908.1:c.727A>T	NP_001363837.1:p.Ser243Cys