Canonical Allele Identifier: CA519114353

Gene: MTM1

Linked Data

• ClinVar Variation Id: 2072739
• ClinVar RCV Id: RCV002949640
• MyVariant Identifiers: chrX:g.149826393C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657920C>T , CM000685.2:g.150657920C>T	GRCh38
NC_000023.10:g.149826393C>T , CM000685.1:g.149826393C>T	GRCh37
NC_000023.9:g.149577051C>T	NCBI36
NG_008199.1:g.94347C>T , LRG_839:g.94347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*686C>T	ENSP00000509844.1:n.*686C>T
ENST00000685439.1:c.808C>T	ENSP00000508454.1:p.Leu270=
ENST00000685944.1:c.1153C>T	ENSP00000509266.1:p.Leu385=
ENST00000686212.1:n.755C>T
ENST00000687215.1:c.*908C>T	ENSP00000509706.1:n.*908C>T
ENST00000688152.1:c.*597C>T	ENSP00000509360.1:n.*597C>T
ENST00000688403.1:c.409C>T	ENSP00000508944.1:p.Leu137=
ENST00000689314.1:c.1198C>T	ENSP00000510607.1:p.Leu400=
ENST00000689694.1:c.1153C>T	ENSP00000508718.1:p.Leu385=
ENST00000689810.1:c.*802C>T	ENSP00000510635.1:n.*802C>T
ENST00000690282.1:c.409C>T	ENSP00000509809.1:p.Leu137=
ENST00000690351.1:c.*805C>T	ENSP00000509728.1:n.*805C>T
ENST00000691232.1:c.808C>T	ENSP00000509675.1:p.Leu270=
ENST00000691482.1:n.2168C>T
ENST00000691686.1:c.1153C>T	ENSP00000509784.1:p.Leu385=
ENST00000691851.1:c.1053+8019C>T	ENSP00000510106.1:n.1053+8019C>T
ENST00000692015.1:c.940C>T	ENSP00000510634.1:p.Leu314=
ENST00000692638.1:c.*958C>T	ENSP00000509412.1:n.*958C>T
ENST00000692852.1:c.964C>T	ENSP00000510337.1:p.Leu322=
ENST00000692915.1:c.*1299C>T	ENSP00000508547.1:n.*1299C>T
ENST00000370396.7:c.1153C>T MANE Select	ENSP00000359423.3:p.Leu385=
ENST00000306167.11:n.1020C>T
ENST00000370396.6:c.1153C>T	ENSP00000359423.2:p.Leu385=
NM_000252.2:c.1153C>T , LRG_839t1:c.1153C>T	NP_000243.1:p.Leu385=
XM_005274687.2:c.1153C>T	XP_005274744.1:p.Leu385=
XM_011531170.1:c.1219C>T	XP_011529472.1:p.Leu407=
XM_011531171.1:c.1198C>T	XP_011529473.1:p.Leu400=
XM_011531172.1:c.1198C>T	XP_011529474.1:p.Leu400=
XM_011531173.1:c.1153C>T	XP_011529475.1:p.Leu385=
XM_011531173.2:c.1153C>T	XP_011529475.1:p.Leu385=
XM_017029547.1:c.1198C>T	XP_016885036.1:p.Leu400=
XM_017029548.1:c.1198C>T	XP_016885037.1:p.Leu400=
XM_017029549.1:c.1153C>T	XP_016885038.1:p.Leu385=
XM_017029550.1:c.1042C>T	XP_016885039.1:p.Leu348=
XM_017029551.2:c.409C>T	XP_016885040.1:p.Leu137=
NM_000252.3:c.1153C>T MANE Select	NP_000243.1:p.Leu385=
NM_001376906.1:c.1153C>T	NP_001363835.1:p.Leu385=
NM_001376907.1:c.1042C>T	NP_001363836.1:p.Leu348=
NM_001376908.1:c.1153C>T	NP_001363837.1:p.Leu385=