Canonical Allele Identifier: CA415256051

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809788A>T (hg19) ; chrX:g.150641315A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641315A>T , CM000685.2:g.150641315A>T	GRCh38
NC_000023.10:g.149809788A>T , CM000685.1:g.149809788A>T	GRCh37
NC_000023.9:g.149560446A>T	NCBI36
NG_008199.1:g.77742A>T , LRG_839:g.77742A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*108A>T	ENSP00000509844.1:n.*108A>T
ENST00000685439.1:c.230A>T	ENSP00000508454.1:p.Tyr77Phe
ENST00000685944.1:c.575A>T	ENSP00000509266.1:p.Tyr192Phe
ENST00000686212.1:n.177A>T
ENST00000687215.1:c.*330A>T	ENSP00000509706.1:n.*330A>T
ENST00000688152.1:c.*19A>T	ENSP00000509360.1:n.*19A>T
ENST00000688403.1:c.-170A>T	ENSP00000508944.1:n.-170A>T
ENST00000689314.1:c.620A>T	ENSP00000510607.1:p.Tyr207Phe
ENST00000689694.1:c.575A>T	ENSP00000508718.1:p.Tyr192Phe
ENST00000689810.1:c.*224A>T	ENSP00000510635.1:n.*224A>T
ENST00000690282.1:c.-170A>T	ENSP00000509809.1:n.-170A>T
ENST00000690351.1:c.*227A>T	ENSP00000509728.1:n.*227A>T
ENST00000691232.1:c.230A>T	ENSP00000509675.1:p.Tyr77Phe
ENST00000691482.1:n.1590A>T
ENST00000691686.1:c.575A>T	ENSP00000509784.1:p.Tyr192Phe
ENST00000691851.1:c.575A>T	ENSP00000510106.1:p.Tyr192Phe
ENST00000692015.1:c.362A>T	ENSP00000510634.1:p.Tyr121Phe
ENST00000692638.1:c.*380A>T	ENSP00000509412.1:n.*380A>T
ENST00000692852.1:c.575A>T	ENSP00000510337.1:p.Tyr192Phe
ENST00000692915.1:c.*782A>T	ENSP00000508547.1:n.*782A>T
ENST00000370396.7:c.575A>T MANE Select	ENSP00000359423.3:p.Tyr192Phe
ENST00000306167.11:n.442A>T
ENST00000370396.6:c.575A>T	ENSP00000359423.2:p.Tyr192Phe
ENST00000490530.1:n.514A>T
NM_000252.2:c.575A>T , LRG_839t1:c.575A>T	NP_000243.1:p.Tyr192Phe
XM_005274687.2:c.575A>T	XP_005274744.1:p.Tyr192Phe
XM_011531170.1:c.641A>T	XP_011529472.1:p.Tyr214Phe
XM_011531171.1:c.620A>T	XP_011529473.1:p.Tyr207Phe
XM_011531172.1:c.620A>T	XP_011529474.1:p.Tyr207Phe
XM_011531173.1:c.575A>T	XP_011529475.1:p.Tyr192Phe
XM_011531173.2:c.575A>T	XP_011529475.1:p.Tyr192Phe
XM_017029547.1:c.620A>T	XP_016885036.1:p.Tyr207Phe
XM_017029548.1:c.620A>T	XP_016885037.1:p.Tyr207Phe
XM_017029549.1:c.575A>T	XP_016885038.1:p.Tyr192Phe
XM_017029550.1:c.464A>T	XP_016885039.1:p.Tyr155Phe
XM_017029551.2:c.-170A>T	XP_016885040.1:n.-170A>T
NM_000252.3:c.575A>T MANE Select	NP_000243.1:p.Tyr192Phe
NM_001376906.1:c.575A>T	NP_001363835.1:p.Tyr192Phe
NM_001376907.1:c.464A>T	NP_001363836.1:p.Tyr155Phe
NM_001376908.1:c.575A>T	NP_001363837.1:p.Tyr192Phe