Canonical Allele Identifier: CA415256135

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809826C>T (hg19) ; chrX:g.150641353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641353C>T , CM000685.2:g.150641353C>T	GRCh38
NC_000023.10:g.149809826C>T , CM000685.1:g.149809826C>T	GRCh37
NC_000023.9:g.149560484C>T	NCBI36
NG_008199.1:g.77780C>T , LRG_839:g.77780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*146C>T	ENSP00000509844.1:n.*146C>T
ENST00000685439.1:c.268C>T	ENSP00000508454.1:p.Pro90Ser
ENST00000685944.1:c.613C>T	ENSP00000509266.1:p.Pro205Ser
ENST00000686212.1:n.215C>T
ENST00000687215.1:c.*368C>T	ENSP00000509706.1:n.*368C>T
ENST00000688152.1:c.*57C>T	ENSP00000509360.1:n.*57C>T
ENST00000688403.1:c.-132C>T	ENSP00000508944.1:n.-132C>T
ENST00000689314.1:c.658C>T	ENSP00000510607.1:p.Pro220Ser
ENST00000689694.1:c.613C>T	ENSP00000508718.1:p.Pro205Ser
ENST00000689810.1:c.*262C>T	ENSP00000510635.1:n.*262C>T
ENST00000690282.1:c.-132C>T	ENSP00000509809.1:n.-132C>T
ENST00000690351.1:c.*265C>T	ENSP00000509728.1:n.*265C>T
ENST00000691232.1:c.268C>T	ENSP00000509675.1:p.Pro90Ser
ENST00000691482.1:n.1628C>T
ENST00000691686.1:c.613C>T	ENSP00000509784.1:p.Pro205Ser
ENST00000691851.1:c.613C>T	ENSP00000510106.1:p.Pro205Ser
ENST00000692015.1:c.400C>T	ENSP00000510634.1:p.Pro134Ser
ENST00000692638.1:c.*418C>T	ENSP00000509412.1:n.*418C>T
ENST00000692852.1:c.613C>T	ENSP00000510337.1:p.Pro205Ser
ENST00000692915.1:c.*820C>T	ENSP00000508547.1:n.*820C>T
ENST00000370396.7:c.613C>T MANE Select	ENSP00000359423.3:p.Pro205Ser
ENST00000306167.11:n.480C>T
ENST00000370396.6:c.613C>T	ENSP00000359423.2:p.Pro205Ser
ENST00000490530.1:n.552C>T
NM_000252.2:c.613C>T , LRG_839t1:c.613C>T	NP_000243.1:p.Pro205Ser
XM_005274687.2:c.613C>T	XP_005274744.1:p.Pro205Ser
XM_011531170.1:c.679C>T	XP_011529472.1:p.Pro227Ser
XM_011531171.1:c.658C>T	XP_011529473.1:p.Pro220Ser
XM_011531172.1:c.658C>T	XP_011529474.1:p.Pro220Ser
XM_011531173.1:c.613C>T	XP_011529475.1:p.Pro205Ser
XM_011531173.2:c.613C>T	XP_011529475.1:p.Pro205Ser
XM_017029547.1:c.658C>T	XP_016885036.1:p.Pro220Ser
XM_017029548.1:c.658C>T	XP_016885037.1:p.Pro220Ser
XM_017029549.1:c.613C>T	XP_016885038.1:p.Pro205Ser
XM_017029550.1:c.502C>T	XP_016885039.1:p.Pro168Ser
XM_017029551.2:c.-132C>T	XP_016885040.1:n.-132C>T
NM_000252.3:c.613C>T MANE Select	NP_000243.1:p.Pro205Ser
NM_001376906.1:c.613C>T	NP_001363835.1:p.Pro205Ser
NM_001376907.1:c.502C>T	NP_001363836.1:p.Pro168Ser
NM_001376908.1:c.613C>T	NP_001363837.1:p.Pro205Ser