Canonical Allele Identifier: CA415256063

Gene: MTM1

Linked Data

• dbSNP Id: rs1557413851
• gnomAD v2: X-149809793-C-G
• MyVariant Identifiers: chrX:g.149809793C>G (hg19) ; chrX:g.150641320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641320C>G , CM000685.2:g.150641320C>G	GRCh38
NC_000023.10:g.149809793C>G , CM000685.1:g.149809793C>G	GRCh37
NC_000023.9:g.149560451C>G	NCBI36
NG_008199.1:g.77747C>G , LRG_839:g.77747C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*113C>G	ENSP00000509844.1:n.*113C>G
ENST00000685439.1:c.235C>G	ENSP00000508454.1:p.Leu79Val
ENST00000685944.1:c.580C>G	ENSP00000509266.1:p.Leu194Val
ENST00000686212.1:n.182C>G
ENST00000687215.1:c.*335C>G	ENSP00000509706.1:n.*335C>G
ENST00000688152.1:c.*24C>G	ENSP00000509360.1:n.*24C>G
ENST00000688403.1:c.-165C>G	ENSP00000508944.1:n.-165C>G
ENST00000689314.1:c.625C>G	ENSP00000510607.1:p.Leu209Val
ENST00000689694.1:c.580C>G	ENSP00000508718.1:p.Leu194Val
ENST00000689810.1:c.*229C>G	ENSP00000510635.1:n.*229C>G
ENST00000690282.1:c.-165C>G	ENSP00000509809.1:n.-165C>G
ENST00000690351.1:c.*232C>G	ENSP00000509728.1:n.*232C>G
ENST00000691232.1:c.235C>G	ENSP00000509675.1:p.Leu79Val
ENST00000691482.1:n.1595C>G
ENST00000691686.1:c.580C>G	ENSP00000509784.1:p.Leu194Val
ENST00000691851.1:c.580C>G	ENSP00000510106.1:p.Leu194Val
ENST00000692015.1:c.367C>G	ENSP00000510634.1:p.Leu123Val
ENST00000692638.1:c.*385C>G	ENSP00000509412.1:n.*385C>G
ENST00000692852.1:c.580C>G	ENSP00000510337.1:p.Leu194Val
ENST00000692915.1:c.*787C>G	ENSP00000508547.1:n.*787C>G
ENST00000370396.7:c.580C>G MANE Select	ENSP00000359423.3:p.Leu194Val
ENST00000306167.11:n.447C>G
ENST00000370396.6:c.580C>G	ENSP00000359423.2:p.Leu194Val
ENST00000490530.1:n.519C>G
NM_000252.2:c.580C>G , LRG_839t1:c.580C>G	NP_000243.1:p.Leu194Val
XM_005274687.2:c.580C>G	XP_005274744.1:p.Leu194Val
XM_011531170.1:c.646C>G	XP_011529472.1:p.Leu216Val
XM_011531171.1:c.625C>G	XP_011529473.1:p.Leu209Val
XM_011531172.1:c.625C>G	XP_011529474.1:p.Leu209Val
XM_011531173.1:c.580C>G	XP_011529475.1:p.Leu194Val
XM_011531173.2:c.580C>G	XP_011529475.1:p.Leu194Val
XM_017029547.1:c.625C>G	XP_016885036.1:p.Leu209Val
XM_017029548.1:c.625C>G	XP_016885037.1:p.Leu209Val
XM_017029549.1:c.580C>G	XP_016885038.1:p.Leu194Val
XM_017029550.1:c.469C>G	XP_016885039.1:p.Leu157Val
XM_017029551.2:c.-165C>G	XP_016885040.1:n.-165C>G
NM_000252.3:c.580C>G MANE Select	NP_000243.1:p.Leu194Val
NM_001376906.1:c.580C>G	NP_001363835.1:p.Leu194Val
NM_001376907.1:c.469C>G	NP_001363836.1:p.Leu157Val
NM_001376908.1:c.580C>G	NP_001363837.1:p.Leu194Val