Canonical Allele Identifier: CA415259694

Gene: MTM1

Linked Data

• ClinVar Variation Id: 530854
• ClinVar RCV Id: RCV000636896
• dbSNP Id: rs587783789
• MyVariant Identifiers: chrX:g.149828896A>C (hg19) ; chrX:g.150660423A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150660423A>C , CM000685.2:g.150660423A>C	GRCh38
NC_000023.10:g.149828896A>C , CM000685.1:g.149828896A>C	GRCh37
NC_000023.9:g.149579554A>C	NCBI36
NG_008199.1:g.96850A>C , LRG_839:g.96850A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*939A>C	ENSP00000509844.1:n.*939A>C
ENST00000685439.1:c.1061A>C	ENSP00000508454.1:p.His354Pro
ENST00000685944.1:c.1406A>C	ENSP00000509266.1:p.His469Pro
ENST00000686212.1:n.1008A>C
ENST00000687215.1:c.*1161A>C	ENSP00000509706.1:n.*1161A>C
ENST00000688152.1:c.*850A>C	ENSP00000509360.1:n.*850A>C
ENST00000688403.1:c.662A>C	ENSP00000508944.1:p.His221Pro
ENST00000689314.1:c.1451A>C	ENSP00000510607.1:p.His484Pro
ENST00000689694.1:c.1406A>C	ENSP00000508718.1:p.His469Pro
ENST00000689810.1:c.*1055A>C	ENSP00000510635.1:n.*1055A>C
ENST00000690282.1:c.662A>C	ENSP00000509809.1:p.His221Pro
ENST00000690351.1:c.*1058A>C	ENSP00000509728.1:n.*1058A>C
ENST00000691232.1:c.1061A>C	ENSP00000509675.1:p.His354Pro
ENST00000691482.1:n.2421A>C
ENST00000691686.1:c.1313A>C	ENSP00000509784.1:p.His438Pro
ENST00000691851.1:c.1053+10522A>C	ENSP00000510106.1:n.1053+10522A>C
ENST00000692015.1:c.1193A>C	ENSP00000510634.1:p.His398Pro
ENST00000692638.1:c.*1204A>C	ENSP00000509412.1:n.*1204A>C
ENST00000692852.1:c.1217A>C	ENSP00000510337.1:p.His406Pro
ENST00000692915.1:c.*1552A>C	ENSP00000508547.1:n.*1552A>C
ENST00000370396.7:c.1406A>C MANE Select	ENSP00000359423.3:p.His469Pro
ENST00000306167.11:n.1273A>C
ENST00000370396.6:c.1406A>C	ENSP00000359423.2:p.His469Pro
NM_000252.2:c.1406A>C , LRG_839t1:c.1406A>C	NP_000243.1:p.His469Pro
XM_005274687.2:c.1406A>C	XP_005274744.1:p.His469Pro
XM_011531170.1:c.1472A>C	XP_011529472.1:p.His491Pro
XM_011531171.1:c.1451A>C	XP_011529473.1:p.His484Pro
XM_011531172.1:c.1451A>C	XP_011529474.1:p.His484Pro
XM_011531173.1:c.1406A>C	XP_011529475.1:p.His469Pro
XM_011531173.2:c.1406A>C	XP_011529475.1:p.His469Pro
XM_017029547.1:c.1451A>C	XP_016885036.1:p.His484Pro
XM_017029548.1:c.1451A>C	XP_016885037.1:p.His484Pro
XM_017029549.1:c.1406A>C	XP_016885038.1:p.His469Pro
XM_017029550.1:c.1295A>C	XP_016885039.1:p.His432Pro
XM_017029551.2:c.662A>C	XP_016885040.1:p.His221Pro
NM_000252.3:c.1406A>C MANE Select	NP_000243.1:p.His469Pro
NM_001376906.1:c.1406A>C	NP_001363835.1:p.His469Pro
NM_001376907.1:c.1295A>C	NP_001363836.1:p.His432Pro
NM_001376908.1:c.1406A>C	NP_001363837.1:p.His469Pro