Canonical Allele Identifier: CA415256094

Gene: MTM1

Linked Data

• ClinVar Variation Id: 633473
• ClinVar RCV Id: RCV000781957
• dbSNP Id: rs1569565497
• MyVariant Identifiers: chrX:g.149809806A>C (hg19) ; chrX:g.150641333A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641333A>C , CM000685.2:g.150641333A>C	GRCh38
NC_000023.10:g.149809806A>C , CM000685.1:g.149809806A>C	GRCh37
NC_000023.9:g.149560464A>C	NCBI36
NG_008199.1:g.77760A>C , LRG_839:g.77760A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*126A>C	ENSP00000509844.1:n.*126A>C
ENST00000685439.1:c.248A>C	ENSP00000508454.1:p.Tyr83Ser
ENST00000685944.1:c.593A>C	ENSP00000509266.1:p.Tyr198Ser
ENST00000686212.1:n.195A>C
ENST00000687215.1:c.*348A>C	ENSP00000509706.1:n.*348A>C
ENST00000688152.1:c.*37A>C	ENSP00000509360.1:n.*37A>C
ENST00000688403.1:c.-152A>C	ENSP00000508944.1:n.-152A>C
ENST00000689314.1:c.638A>C	ENSP00000510607.1:p.Tyr213Ser
ENST00000689694.1:c.593A>C	ENSP00000508718.1:p.Tyr198Ser
ENST00000689810.1:c.*242A>C	ENSP00000510635.1:n.*242A>C
ENST00000690282.1:c.-152A>C	ENSP00000509809.1:n.-152A>C
ENST00000690351.1:c.*245A>C	ENSP00000509728.1:n.*245A>C
ENST00000691232.1:c.248A>C	ENSP00000509675.1:p.Tyr83Ser
ENST00000691482.1:n.1608A>C
ENST00000691686.1:c.593A>C	ENSP00000509784.1:p.Tyr198Ser
ENST00000691851.1:c.593A>C	ENSP00000510106.1:p.Tyr198Ser
ENST00000692015.1:c.380A>C	ENSP00000510634.1:p.Tyr127Ser
ENST00000692638.1:c.*398A>C	ENSP00000509412.1:n.*398A>C
ENST00000692852.1:c.593A>C	ENSP00000510337.1:p.Tyr198Ser
ENST00000692915.1:c.*800A>C	ENSP00000508547.1:n.*800A>C
ENST00000370396.7:c.593A>C MANE Select	ENSP00000359423.3:p.Tyr198Ser
ENST00000306167.11:n.460A>C
ENST00000370396.6:c.593A>C	ENSP00000359423.2:p.Tyr198Ser
ENST00000490530.1:n.532A>C
NM_000252.2:c.593A>C , LRG_839t1:c.593A>C	NP_000243.1:p.Tyr198Ser
XM_005274687.2:c.593A>C	XP_005274744.1:p.Tyr198Ser
XM_011531170.1:c.659A>C	XP_011529472.1:p.Tyr220Ser
XM_011531171.1:c.638A>C	XP_011529473.1:p.Tyr213Ser
XM_011531172.1:c.638A>C	XP_011529474.1:p.Tyr213Ser
XM_011531173.1:c.593A>C	XP_011529475.1:p.Tyr198Ser
XM_011531173.2:c.593A>C	XP_011529475.1:p.Tyr198Ser
XM_017029547.1:c.638A>C	XP_016885036.1:p.Tyr213Ser
XM_017029548.1:c.638A>C	XP_016885037.1:p.Tyr213Ser
XM_017029549.1:c.593A>C	XP_016885038.1:p.Tyr198Ser
XM_017029550.1:c.482A>C	XP_016885039.1:p.Tyr161Ser
XM_017029551.2:c.-152A>C	XP_016885040.1:n.-152A>C
NM_000252.3:c.593A>C MANE Select	NP_000243.1:p.Tyr198Ser
NM_001376906.1:c.593A>C	NP_001363835.1:p.Tyr198Ser
NM_001376907.1:c.482A>C	NP_001363836.1:p.Tyr161Ser
NM_001376908.1:c.593A>C	NP_001363837.1:p.Tyr198Ser