Canonical Allele Identifier: CA415255974

Gene: MTM1

Linked Data

• ClinVar Variation Id: 663498
• ClinVar RCV Id: RCV000821382
• dbSNP Id: rs1603187692
• gnomAD v4: X-150641283-C-G
• MyVariant Identifiers: chrX:g.149809756C>G (hg19) ; chrX:g.150641283C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641283C>G , CM000685.2:g.150641283C>G	GRCh38
NC_000023.10:g.149809756C>G , CM000685.1:g.149809756C>G	GRCh37
NC_000023.9:g.149560414C>G	NCBI36
NG_008199.1:g.77710C>G , LRG_839:g.77710C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*76C>G	ENSP00000509844.1:n.*76C>G
ENST00000685439.1:c.198C>G	ENSP00000508454.1:p.His66Gln
ENST00000685944.1:c.543C>G	ENSP00000509266.1:p.His181Gln
ENST00000686212.1:n.145C>G
ENST00000687215.1:c.*298C>G	ENSP00000509706.1:n.*298C>G
ENST00000688152.1:c.599C>G	ENSP00000509360.1:p.Thr200Ser
ENST00000688403.1:c.-202C>G	ENSP00000508944.1:n.-202C>G
ENST00000689314.1:c.588C>G	ENSP00000510607.1:p.His196Gln
ENST00000689694.1:c.543C>G	ENSP00000508718.1:p.His181Gln
ENST00000689810.1:c.*192C>G	ENSP00000510635.1:n.*192C>G
ENST00000690282.1:c.-202C>G	ENSP00000509809.1:n.-202C>G
ENST00000690351.1:c.*195C>G	ENSP00000509728.1:n.*195C>G
ENST00000691232.1:c.198C>G	ENSP00000509675.1:p.His66Gln
ENST00000691482.1:n.1558C>G
ENST00000691686.1:c.543C>G	ENSP00000509784.1:p.His181Gln
ENST00000691851.1:c.543C>G	ENSP00000510106.1:p.His181Gln
ENST00000692015.1:c.330C>G	ENSP00000510634.1:p.His110Gln
ENST00000692638.1:c.*348C>G	ENSP00000509412.1:n.*348C>G
ENST00000692852.1:c.543C>G	ENSP00000510337.1:p.His181Gln
ENST00000692915.1:c.*750C>G	ENSP00000508547.1:n.*750C>G
ENST00000370396.7:c.543C>G MANE Select	ENSP00000359423.3:p.His181Gln
ENST00000306167.11:n.410C>G
ENST00000370396.6:c.543C>G	ENSP00000359423.2:p.His181Gln
ENST00000490530.1:n.482C>G
NM_000252.2:c.543C>G , LRG_839t1:c.543C>G	NP_000243.1:p.His181Gln
XM_005274687.2:c.543C>G	XP_005274744.1:p.His181Gln
XM_011531170.1:c.609C>G	XP_011529472.1:p.His203Gln
XM_011531171.1:c.588C>G	XP_011529473.1:p.His196Gln
XM_011531172.1:c.588C>G	XP_011529474.1:p.His196Gln
XM_011531173.1:c.543C>G	XP_011529475.1:p.His181Gln
XM_011531173.2:c.543C>G	XP_011529475.1:p.His181Gln
XM_017029547.1:c.588C>G	XP_016885036.1:p.His196Gln
XM_017029548.1:c.588C>G	XP_016885037.1:p.His196Gln
XM_017029549.1:c.543C>G	XP_016885038.1:p.His181Gln
XM_017029550.1:c.432C>G	XP_016885039.1:p.His144Gln
XM_017029551.2:c.-202C>G	XP_016885040.1:n.-202C>G
NM_000252.3:c.543C>G MANE Select	NP_000243.1:p.His181Gln
NM_001376906.1:c.543C>G	NP_001363835.1:p.His181Gln
NM_001376907.1:c.432C>G	NP_001363836.1:p.His144Gln
NM_001376908.1:c.543C>G	NP_001363837.1:p.His181Gln