Canonical Allele Identifier: CA519114253

Gene: MTM1

Linked Data

• ClinVar Variation Id: 1563745
• ClinVar RCV Id: RCV002209458
• dbSNP Id: rs2040150089
• MyVariant Identifiers: chrX:g.149826362T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150657889T>C , CM000685.2:g.150657889T>C	GRCh38
NC_000023.10:g.149826362T>C , CM000685.1:g.149826362T>C	GRCh37
NC_000023.9:g.149577020T>C	NCBI36
NG_008199.1:g.94316T>C , LRG_839:g.94316T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*655T>C	ENSP00000509844.1:n.*655T>C
ENST00000685439.1:c.777T>C	ENSP00000508454.1:p.His259=
ENST00000685944.1:c.1122T>C	ENSP00000509266.1:p.His374=
ENST00000686212.1:n.724T>C
ENST00000687215.1:c.*877T>C	ENSP00000509706.1:n.*877T>C
ENST00000688152.1:c.*566T>C	ENSP00000509360.1:n.*566T>C
ENST00000688403.1:c.378T>C	ENSP00000508944.1:p.His126=
ENST00000689314.1:c.1167T>C	ENSP00000510607.1:p.His389=
ENST00000689694.1:c.1122T>C	ENSP00000508718.1:p.His374=
ENST00000689810.1:c.*771T>C	ENSP00000510635.1:n.*771T>C
ENST00000690282.1:c.378T>C	ENSP00000509809.1:p.His126=
ENST00000690351.1:c.*774T>C	ENSP00000509728.1:n.*774T>C
ENST00000691232.1:c.777T>C	ENSP00000509675.1:p.His259=
ENST00000691482.1:n.2137T>C
ENST00000691686.1:c.1122T>C	ENSP00000509784.1:p.His374=
ENST00000691851.1:c.1053+7988T>C	ENSP00000510106.1:n.1053+7988T>C
ENST00000692015.1:c.909T>C	ENSP00000510634.1:p.His303=
ENST00000692638.1:c.*927T>C	ENSP00000509412.1:n.*927T>C
ENST00000692852.1:c.933T>C	ENSP00000510337.1:p.His311=
ENST00000692915.1:c.*1268T>C	ENSP00000508547.1:n.*1268T>C
ENST00000370396.7:c.1122T>C MANE Select	ENSP00000359423.3:p.His374=
ENST00000306167.11:n.989T>C
ENST00000370396.6:c.1122T>C	ENSP00000359423.2:p.His374=
NM_000252.2:c.1122T>C , LRG_839t1:c.1122T>C	NP_000243.1:p.His374=
XM_005274687.2:c.1122T>C	XP_005274744.1:p.His374=
XM_011531170.1:c.1188T>C	XP_011529472.1:p.His396=
XM_011531171.1:c.1167T>C	XP_011529473.1:p.His389=
XM_011531172.1:c.1167T>C	XP_011529474.1:p.His389=
XM_011531173.1:c.1122T>C	XP_011529475.1:p.His374=
XM_011531173.2:c.1122T>C	XP_011529475.1:p.His374=
XM_017029547.1:c.1167T>C	XP_016885036.1:p.His389=
XM_017029548.1:c.1167T>C	XP_016885037.1:p.His389=
XM_017029549.1:c.1122T>C	XP_016885038.1:p.His374=
XM_017029550.1:c.1011T>C	XP_016885039.1:p.His337=
XM_017029551.2:c.378T>C	XP_016885040.1:p.His126=
NM_000252.3:c.1122T>C MANE Select	NP_000243.1:p.His374=
NM_001376906.1:c.1122T>C	NP_001363835.1:p.His374=
NM_001376907.1:c.1011T>C	NP_001363836.1:p.His337=
NM_001376908.1:c.1122T>C	NP_001363837.1:p.His374=