Canonical Allele Identifier: CA415256189

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809851T>C (hg19) ; chrX:g.150641378T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641378T>C , CM000685.2:g.150641378T>C	GRCh38
NC_000023.10:g.149809851T>C , CM000685.1:g.149809851T>C	GRCh37
NC_000023.9:g.149560509T>C	NCBI36
NG_008199.1:g.77805T>C , LRG_839:g.77805T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*171T>C	ENSP00000509844.1:n.*171T>C
ENST00000685439.1:c.293T>C	ENSP00000508454.1:p.Leu98Pro
ENST00000685944.1:c.638T>C	ENSP00000509266.1:p.Leu213Pro
ENST00000686212.1:n.240T>C
ENST00000687215.1:c.*393T>C	ENSP00000509706.1:n.*393T>C
ENST00000688152.1:c.*82T>C	ENSP00000509360.1:n.*82T>C
ENST00000688403.1:c.-107T>C	ENSP00000508944.1:n.-107T>C
ENST00000689314.1:c.683T>C	ENSP00000510607.1:p.Leu228Pro
ENST00000689694.1:c.638T>C	ENSP00000508718.1:p.Leu213Pro
ENST00000689810.1:c.*287T>C	ENSP00000510635.1:n.*287T>C
ENST00000690282.1:c.-107T>C	ENSP00000509809.1:n.-107T>C
ENST00000690351.1:c.*290T>C	ENSP00000509728.1:n.*290T>C
ENST00000691232.1:c.293T>C	ENSP00000509675.1:p.Leu98Pro
ENST00000691482.1:n.1653T>C
ENST00000691686.1:c.638T>C	ENSP00000509784.1:p.Leu213Pro
ENST00000691851.1:c.638T>C	ENSP00000510106.1:p.Leu213Pro
ENST00000692015.1:c.425T>C	ENSP00000510634.1:p.Leu142Pro
ENST00000692638.1:c.*443T>C	ENSP00000509412.1:n.*443T>C
ENST00000692852.1:c.638T>C	ENSP00000510337.1:p.Leu213Pro
ENST00000692915.1:c.*845T>C	ENSP00000508547.1:n.*845T>C
ENST00000370396.7:c.638T>C MANE Select	ENSP00000359423.3:p.Leu213Pro
ENST00000306167.11:n.505T>C
ENST00000370396.6:c.638T>C	ENSP00000359423.2:p.Leu213Pro
ENST00000490530.1:n.577T>C
NM_000252.2:c.638T>C , LRG_839t1:c.638T>C	NP_000243.1:p.Leu213Pro
XM_005274687.2:c.638T>C	XP_005274744.1:p.Leu213Pro
XM_011531170.1:c.704T>C	XP_011529472.1:p.Leu235Pro
XM_011531171.1:c.683T>C	XP_011529473.1:p.Leu228Pro
XM_011531172.1:c.683T>C	XP_011529474.1:p.Leu228Pro
XM_011531173.1:c.638T>C	XP_011529475.1:p.Leu213Pro
XM_011531173.2:c.638T>C	XP_011529475.1:p.Leu213Pro
XM_017029547.1:c.683T>C	XP_016885036.1:p.Leu228Pro
XM_017029548.1:c.683T>C	XP_016885037.1:p.Leu228Pro
XM_017029549.1:c.638T>C	XP_016885038.1:p.Leu213Pro
XM_017029550.1:c.527T>C	XP_016885039.1:p.Leu176Pro
XM_017029551.2:c.-107T>C	XP_016885040.1:n.-107T>C
NM_000252.3:c.638T>C MANE Select	NP_000243.1:p.Leu213Pro
NM_001376906.1:c.638T>C	NP_001363835.1:p.Leu213Pro
NM_001376907.1:c.527T>C	NP_001363836.1:p.Leu176Pro
NM_001376908.1:c.638T>C	NP_001363837.1:p.Leu213Pro