Canonical Allele Identifier: CA519114704

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149826482T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150658009T>C , CM000685.2:g.150658009T>C	GRCh38
NC_000023.10:g.149826482T>C , CM000685.1:g.149826482T>C	GRCh37
NC_000023.9:g.149577140T>C	NCBI36
NG_008199.1:g.94436T>C , LRG_839:g.94436T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*775T>C	ENSP00000509844.1:n.*775T>C
ENST00000685439.1:c.897T>C	ENSP00000508454.1:p.Phe299=
ENST00000685944.1:c.1242T>C	ENSP00000509266.1:p.Phe414=
ENST00000686212.1:n.844T>C
ENST00000687215.1:c.*997T>C	ENSP00000509706.1:n.*997T>C
ENST00000688152.1:c.*686T>C	ENSP00000509360.1:n.*686T>C
ENST00000688403.1:c.498T>C	ENSP00000508944.1:p.Phe166=
ENST00000689314.1:c.1287T>C	ENSP00000510607.1:p.Phe429=
ENST00000689694.1:c.1242T>C	ENSP00000508718.1:p.Phe414=
ENST00000689810.1:c.*891T>C	ENSP00000510635.1:n.*891T>C
ENST00000690282.1:c.498T>C	ENSP00000509809.1:p.Phe166=
ENST00000690351.1:c.*894T>C	ENSP00000509728.1:n.*894T>C
ENST00000691232.1:c.897T>C	ENSP00000509675.1:p.Phe299=
ENST00000691482.1:n.2257T>C
ENST00000691686.1:c.1242T>C	ENSP00000509784.1:p.Phe414=
ENST00000691851.1:c.1053+8108T>C	ENSP00000510106.1:n.1053+8108T>C
ENST00000692015.1:c.1029T>C	ENSP00000510634.1:p.Phe343=
ENST00000692638.1:c.*1047T>C	ENSP00000509412.1:n.*1047T>C
ENST00000692852.1:c.1053T>C	ENSP00000510337.1:p.Phe351=
ENST00000692915.1:c.*1388T>C	ENSP00000508547.1:n.*1388T>C
ENST00000370396.7:c.1242T>C MANE Select	ENSP00000359423.3:p.Phe414=
ENST00000306167.11:n.1109T>C
ENST00000370396.6:c.1242T>C	ENSP00000359423.2:p.Phe414=
NM_000252.2:c.1242T>C , LRG_839t1:c.1242T>C	NP_000243.1:p.Phe414=
XM_005274687.2:c.1242T>C	XP_005274744.1:p.Phe414=
XM_011531170.1:c.1308T>C	XP_011529472.1:p.Phe436=
XM_011531171.1:c.1287T>C	XP_011529473.1:p.Phe429=
XM_011531172.1:c.1287T>C	XP_011529474.1:p.Phe429=
XM_011531173.1:c.1242T>C	XP_011529475.1:p.Phe414=
XM_011531173.2:c.1242T>C	XP_011529475.1:p.Phe414=
XM_017029547.1:c.1287T>C	XP_016885036.1:p.Phe429=
XM_017029548.1:c.1287T>C	XP_016885037.1:p.Phe429=
XM_017029549.1:c.1242T>C	XP_016885038.1:p.Phe414=
XM_017029550.1:c.1131T>C	XP_016885039.1:p.Phe377=
XM_017029551.2:c.498T>C	XP_016885040.1:p.Phe166=
NM_000252.3:c.1242T>C MANE Select	NP_000243.1:p.Phe414=
NM_001376906.1:c.1242T>C	NP_001363835.1:p.Phe414=
NM_001376907.1:c.1131T>C	NP_001363836.1:p.Phe377=
NM_001376908.1:c.1242T>C	NP_001363837.1:p.Phe414=