Canonical Allele Identifier: CA10539129

Gene: MTM1

Linked Data

• ClinVar Variation Id: 1166631
• ClinVar RCV Id: RCV001515039
• dbSNP Id: rs781995404
• ExAC: X:149809752 A / G
• gnomAD v2: X-149809752-A-G
• gnomAD v4: X-150641279-A-G
• COSMIC: COSM456961
• MyVariant Identifiers: chrX:g.149809752A>G (hg19) ; chrX:g.150641279A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641279A>G , CM000685.2:g.150641279A>G	GRCh38
NC_000023.10:g.149809752A>G , CM000685.1:g.149809752A>G	GRCh37
NC_000023.9:g.149560410A>G	NCBI36
NG_008199.1:g.77706A>G , LRG_839:g.77706A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*72A>G	ENSP00000509844.1:n.*72A>G
ENST00000685439.1:c.194A>G	ENSP00000508454.1:p.Asn65Ser
ENST00000685944.1:c.539A>G	ENSP00000509266.1:p.Asn180Ser
ENST00000686212.1:n.141A>G
ENST00000687215.1:c.*294A>G	ENSP00000509706.1:n.*294A>G
ENST00000688152.1:c.595A>G	ENSP00000509360.1:p.Ile199Val
ENST00000688403.1:c.-206A>G	ENSP00000508944.1:n.-206A>G
ENST00000689314.1:c.584A>G	ENSP00000510607.1:p.Asn195Ser
ENST00000689694.1:c.539A>G	ENSP00000508718.1:p.Asn180Ser
ENST00000689810.1:c.*188A>G	ENSP00000510635.1:n.*188A>G
ENST00000690282.1:c.-206A>G	ENSP00000509809.1:n.-206A>G
ENST00000690351.1:c.*191A>G	ENSP00000509728.1:n.*191A>G
ENST00000691232.1:c.194A>G	ENSP00000509675.1:p.Asn65Ser
ENST00000691482.1:n.1554A>G
ENST00000691686.1:c.539A>G	ENSP00000509784.1:p.Asn180Ser
ENST00000691851.1:c.539A>G	ENSP00000510106.1:p.Asn180Ser
ENST00000692015.1:c.326A>G	ENSP00000510634.1:p.Asn109Ser
ENST00000692638.1:c.*344A>G	ENSP00000509412.1:n.*344A>G
ENST00000692852.1:c.539A>G	ENSP00000510337.1:p.Asn180Ser
ENST00000692915.1:c.*746A>G	ENSP00000508547.1:n.*746A>G
ENST00000370396.7:c.539A>G MANE Select	ENSP00000359423.3:p.Asn180Ser
ENST00000306167.11:n.406A>G
ENST00000370396.6:c.539A>G	ENSP00000359423.2:p.Asn180Ser
ENST00000490530.1:n.478A>G
NM_000252.2:c.539A>G , LRG_839t1:c.539A>G	NP_000243.1:p.Asn180Ser
XM_005274687.2:c.539A>G	XP_005274744.1:p.Asn180Ser
XM_011531170.1:c.605A>G	XP_011529472.1:p.Asn202Ser
XM_011531171.1:c.584A>G	XP_011529473.1:p.Asn195Ser
XM_011531172.1:c.584A>G	XP_011529474.1:p.Asn195Ser
XM_011531173.1:c.539A>G	XP_011529475.1:p.Asn180Ser
XM_011531173.2:c.539A>G	XP_011529475.1:p.Asn180Ser
XM_017029547.1:c.584A>G	XP_016885036.1:p.Asn195Ser
XM_017029548.1:c.584A>G	XP_016885037.1:p.Asn195Ser
XM_017029549.1:c.539A>G	XP_016885038.1:p.Asn180Ser
XM_017029550.1:c.428A>G	XP_016885039.1:p.Asn143Ser
XM_017029551.2:c.-206A>G	XP_016885040.1:n.-206A>G
NM_000252.3:c.539A>G MANE Select	NP_000243.1:p.Asn180Ser
NM_001376906.1:c.539A>G	NP_001363835.1:p.Asn180Ser
NM_001376907.1:c.428A>G	NP_001363836.1:p.Asn143Ser
NM_001376908.1:c.539A>G	NP_001363837.1:p.Asn180Ser