Canonical Allele Identifier: CA415256110

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809814C>A (hg19) ; chrX:g.150641341C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641341C>A , CM000685.2:g.150641341C>A	GRCh38
NC_000023.10:g.149809814C>A , CM000685.1:g.149809814C>A	GRCh37
NC_000023.9:g.149560472C>A	NCBI36
NG_008199.1:g.77768C>A , LRG_839:g.77768C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*134C>A	ENSP00000509844.1:n.*134C>A
ENST00000685439.1:c.256C>A	ENSP00000508454.1:p.Leu86Ile
ENST00000685944.1:c.601C>A	ENSP00000509266.1:p.Leu201Ile
ENST00000686212.1:n.203C>A
ENST00000687215.1:c.*356C>A	ENSP00000509706.1:n.*356C>A
ENST00000688152.1:c.*45C>A	ENSP00000509360.1:n.*45C>A
ENST00000688403.1:c.-144C>A	ENSP00000508944.1:n.-144C>A
ENST00000689314.1:c.646C>A	ENSP00000510607.1:p.Leu216Ile
ENST00000689694.1:c.601C>A	ENSP00000508718.1:p.Leu201Ile
ENST00000689810.1:c.*250C>A	ENSP00000510635.1:n.*250C>A
ENST00000690282.1:c.-144C>A	ENSP00000509809.1:n.-144C>A
ENST00000690351.1:c.*253C>A	ENSP00000509728.1:n.*253C>A
ENST00000691232.1:c.256C>A	ENSP00000509675.1:p.Leu86Ile
ENST00000691482.1:n.1616C>A
ENST00000691686.1:c.601C>A	ENSP00000509784.1:p.Leu201Ile
ENST00000691851.1:c.601C>A	ENSP00000510106.1:p.Leu201Ile
ENST00000692015.1:c.388C>A	ENSP00000510634.1:p.Leu130Ile
ENST00000692638.1:c.*406C>A	ENSP00000509412.1:n.*406C>A
ENST00000692852.1:c.601C>A	ENSP00000510337.1:p.Leu201Ile
ENST00000692915.1:c.*808C>A	ENSP00000508547.1:n.*808C>A
ENST00000370396.7:c.601C>A MANE Select	ENSP00000359423.3:p.Leu201Ile
ENST00000306167.11:n.468C>A
ENST00000370396.6:c.601C>A	ENSP00000359423.2:p.Leu201Ile
ENST00000490530.1:n.540C>A
NM_000252.2:c.601C>A , LRG_839t1:c.601C>A	NP_000243.1:p.Leu201Ile
XM_005274687.2:c.601C>A	XP_005274744.1:p.Leu201Ile
XM_011531170.1:c.667C>A	XP_011529472.1:p.Leu223Ile
XM_011531171.1:c.646C>A	XP_011529473.1:p.Leu216Ile
XM_011531172.1:c.646C>A	XP_011529474.1:p.Leu216Ile
XM_011531173.1:c.601C>A	XP_011529475.1:p.Leu201Ile
XM_011531173.2:c.601C>A	XP_011529475.1:p.Leu201Ile
XM_017029547.1:c.646C>A	XP_016885036.1:p.Leu216Ile
XM_017029548.1:c.646C>A	XP_016885037.1:p.Leu216Ile
XM_017029549.1:c.601C>A	XP_016885038.1:p.Leu201Ile
XM_017029550.1:c.490C>A	XP_016885039.1:p.Leu164Ile
XM_017029551.2:c.-144C>A	XP_016885040.1:n.-144C>A
NM_000252.3:c.601C>A MANE Select	NP_000243.1:p.Leu201Ile
NM_001376906.1:c.601C>A	NP_001363835.1:p.Leu201Ile
NM_001376907.1:c.490C>A	NP_001363836.1:p.Leu164Ile
NM_001376908.1:c.601C>A	NP_001363837.1:p.Leu201Ile