Canonical Allele Identifier: CA415256325

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149814174C>G (hg19) ; chrX:g.150645701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645701C>G , CM000685.2:g.150645701C>G	GRCh38
NC_000023.10:g.149814174C>G , CM000685.1:g.149814174C>G	GRCh37
NC_000023.9:g.149564832C>G	NCBI36
NG_008199.1:g.82128C>G , LRG_839:g.82128C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*230C>G	ENSP00000509844.1:n.*230C>G
ENST00000685439.1:c.352C>G	ENSP00000508454.1:p.Pro118Ala
ENST00000685944.1:c.697C>G	ENSP00000509266.1:p.Pro233Ala
ENST00000686212.1:n.299C>G
ENST00000687215.1:c.*452C>G	ENSP00000509706.1:n.*452C>G
ENST00000688152.1:c.*141C>G	ENSP00000509360.1:n.*141C>G
ENST00000688403.1:c.-48C>G	ENSP00000508944.1:n.-48C>G
ENST00000689314.1:c.742C>G	ENSP00000510607.1:p.Pro248Ala
ENST00000689694.1:c.697C>G	ENSP00000508718.1:p.Pro233Ala
ENST00000689810.1:c.*346C>G	ENSP00000510635.1:n.*346C>G
ENST00000690282.1:c.-48C>G	ENSP00000509809.1:n.-48C>G
ENST00000690351.1:c.*349C>G	ENSP00000509728.1:n.*349C>G
ENST00000691232.1:c.352C>G	ENSP00000509675.1:p.Pro118Ala
ENST00000691482.1:n.1712C>G
ENST00000691686.1:c.697C>G	ENSP00000509784.1:p.Pro233Ala
ENST00000691851.1:c.697C>G	ENSP00000510106.1:p.Pro233Ala
ENST00000692015.1:c.484C>G	ENSP00000510634.1:p.Pro162Ala
ENST00000692638.1:c.*502C>G	ENSP00000509412.1:n.*502C>G
ENST00000692852.1:c.679-4015C>G	ENSP00000510337.1:n.679-4015C>G
ENST00000692915.1:c.*904C>G	ENSP00000508547.1:n.*904C>G
ENST00000370396.7:c.697C>G MANE Select	ENSP00000359423.3:p.Pro233Ala
ENST00000306167.11:n.564C>G
ENST00000370396.6:c.697C>G	ENSP00000359423.2:p.Pro233Ala
ENST00000490530.1:n.636C>G
NM_000252.2:c.697C>G , LRG_839t1:c.697C>G	NP_000243.1:p.Pro233Ala
XM_005274687.2:c.697C>G	XP_005274744.1:p.Pro233Ala
XM_011531170.1:c.763C>G	XP_011529472.1:p.Pro255Ala
XM_011531171.1:c.742C>G	XP_011529473.1:p.Pro248Ala
XM_011531172.1:c.742C>G	XP_011529474.1:p.Pro248Ala
XM_011531173.1:c.697C>G	XP_011529475.1:p.Pro233Ala
XM_011531173.2:c.697C>G	XP_011529475.1:p.Pro233Ala
XM_017029547.1:c.742C>G	XP_016885036.1:p.Pro248Ala
XM_017029548.1:c.742C>G	XP_016885037.1:p.Pro248Ala
XM_017029549.1:c.697C>G	XP_016885038.1:p.Pro233Ala
XM_017029550.1:c.586C>G	XP_016885039.1:p.Pro196Ala
XM_017029551.2:c.-48C>G	XP_016885040.1:n.-48C>G
NM_000252.3:c.697C>G MANE Select	NP_000243.1:p.Pro233Ala
NM_001376906.1:c.697C>G	NP_001363835.1:p.Pro233Ala
NM_001376907.1:c.586C>G	NP_001363836.1:p.Pro196Ala
NM_001376908.1:c.697C>G	NP_001363837.1:p.Pro233Ala