Canonical Allele Identifier: CA519114601

Gene: MTM1

Linked Data

• dbSNP Id: rs1188510665
• MyVariant Identifiers: chrX:g.149826456C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657983C>T , CM000685.2:g.150657983C>T	GRCh38
NC_000023.10:g.149826456C>T , CM000685.1:g.149826456C>T	GRCh37
NC_000023.9:g.149577114C>T	NCBI36
NG_008199.1:g.94410C>T , LRG_839:g.94410C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*749C>T	ENSP00000509844.1:n.*749C>T
ENST00000685439.1:c.871C>T	ENSP00000508454.1:p.Leu291=
ENST00000685944.1:c.1216C>T	ENSP00000509266.1:p.Leu406=
ENST00000686212.1:n.818C>T
ENST00000687215.1:c.*971C>T	ENSP00000509706.1:n.*971C>T
ENST00000688152.1:c.*660C>T	ENSP00000509360.1:n.*660C>T
ENST00000688403.1:c.472C>T	ENSP00000508944.1:p.Leu158=
ENST00000689314.1:c.1261C>T	ENSP00000510607.1:p.Leu421=
ENST00000689694.1:c.1216C>T	ENSP00000508718.1:p.Leu406=
ENST00000689810.1:c.*865C>T	ENSP00000510635.1:n.*865C>T
ENST00000690282.1:c.472C>T	ENSP00000509809.1:p.Leu158=
ENST00000690351.1:c.*868C>T	ENSP00000509728.1:n.*868C>T
ENST00000691232.1:c.871C>T	ENSP00000509675.1:p.Leu291=
ENST00000691482.1:n.2231C>T
ENST00000691686.1:c.1216C>T	ENSP00000509784.1:p.Leu406=
ENST00000691851.1:c.1053+8082C>T	ENSP00000510106.1:n.1053+8082C>T
ENST00000692015.1:c.1003C>T	ENSP00000510634.1:p.Leu335=
ENST00000692638.1:c.*1021C>T	ENSP00000509412.1:n.*1021C>T
ENST00000692852.1:c.1027C>T	ENSP00000510337.1:p.Leu343=
ENST00000692915.1:c.*1362C>T	ENSP00000508547.1:n.*1362C>T
ENST00000370396.7:c.1216C>T MANE Select	ENSP00000359423.3:p.Leu406=
ENST00000306167.11:n.1083C>T
ENST00000370396.6:c.1216C>T	ENSP00000359423.2:p.Leu406=
NM_000252.2:c.1216C>T , LRG_839t1:c.1216C>T	NP_000243.1:p.Leu406=
XM_005274687.2:c.1216C>T	XP_005274744.1:p.Leu406=
XM_011531170.1:c.1282C>T	XP_011529472.1:p.Leu428=
XM_011531171.1:c.1261C>T	XP_011529473.1:p.Leu421=
XM_011531172.1:c.1261C>T	XP_011529474.1:p.Leu421=
XM_011531173.1:c.1216C>T	XP_011529475.1:p.Leu406=
XM_011531173.2:c.1216C>T	XP_011529475.1:p.Leu406=
XM_017029547.1:c.1261C>T	XP_016885036.1:p.Leu421=
XM_017029548.1:c.1261C>T	XP_016885037.1:p.Leu421=
XM_017029549.1:c.1216C>T	XP_016885038.1:p.Leu406=
XM_017029550.1:c.1105C>T	XP_016885039.1:p.Leu369=
XM_017029551.2:c.472C>T	XP_016885040.1:p.Leu158=
NM_000252.3:c.1216C>T MANE Select	NP_000243.1:p.Leu406=
NM_001376906.1:c.1216C>T	NP_001363835.1:p.Leu406=
NM_001376907.1:c.1105C>T	NP_001363836.1:p.Leu369=
NM_001376908.1:c.1216C>T	NP_001363837.1:p.Leu406=