Canonical Allele Identifier: CA415256151

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809833G>C (hg19) ; chrX:g.150641360G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641360G>C , CM000685.2:g.150641360G>C	GRCh38
NC_000023.10:g.149809833G>C , CM000685.1:g.149809833G>C	GRCh37
NC_000023.9:g.149560491G>C	NCBI36
NG_008199.1:g.77787G>C , LRG_839:g.77787G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*153G>C	ENSP00000509844.1:n.*153G>C
ENST00000685439.1:c.275G>C	ENSP00000508454.1:p.Arg92Pro
ENST00000685944.1:c.620G>C	ENSP00000509266.1:p.Arg207Pro
ENST00000686212.1:n.222G>C
ENST00000687215.1:c.*375G>C	ENSP00000509706.1:n.*375G>C
ENST00000688152.1:c.*64G>C	ENSP00000509360.1:n.*64G>C
ENST00000688403.1:c.-125G>C	ENSP00000508944.1:n.-125G>C
ENST00000689314.1:c.665G>C	ENSP00000510607.1:p.Arg222Pro
ENST00000689694.1:c.620G>C	ENSP00000508718.1:p.Arg207Pro
ENST00000689810.1:c.*269G>C	ENSP00000510635.1:n.*269G>C
ENST00000690282.1:c.-125G>C	ENSP00000509809.1:n.-125G>C
ENST00000690351.1:c.*272G>C	ENSP00000509728.1:n.*272G>C
ENST00000691232.1:c.275G>C	ENSP00000509675.1:p.Arg92Pro
ENST00000691482.1:n.1635G>C
ENST00000691686.1:c.620G>C	ENSP00000509784.1:p.Arg207Pro
ENST00000691851.1:c.620G>C	ENSP00000510106.1:p.Arg207Pro
ENST00000692015.1:c.407G>C	ENSP00000510634.1:p.Arg136Pro
ENST00000692638.1:c.*425G>C	ENSP00000509412.1:n.*425G>C
ENST00000692852.1:c.620G>C	ENSP00000510337.1:p.Arg207Pro
ENST00000692915.1:c.*827G>C	ENSP00000508547.1:n.*827G>C
ENST00000370396.7:c.620G>C MANE Select	ENSP00000359423.3:p.Arg207Pro
ENST00000306167.11:n.487G>C
ENST00000370396.6:c.620G>C	ENSP00000359423.2:p.Arg207Pro
ENST00000490530.1:n.559G>C
NM_000252.2:c.620G>C , LRG_839t1:c.620G>C	NP_000243.1:p.Arg207Pro
XM_005274687.2:c.620G>C	XP_005274744.1:p.Arg207Pro
XM_011531170.1:c.686G>C	XP_011529472.1:p.Arg229Pro
XM_011531171.1:c.665G>C	XP_011529473.1:p.Arg222Pro
XM_011531172.1:c.665G>C	XP_011529474.1:p.Arg222Pro
XM_011531173.1:c.620G>C	XP_011529475.1:p.Arg207Pro
XM_011531173.2:c.620G>C	XP_011529475.1:p.Arg207Pro
XM_017029547.1:c.665G>C	XP_016885036.1:p.Arg222Pro
XM_017029548.1:c.665G>C	XP_016885037.1:p.Arg222Pro
XM_017029549.1:c.620G>C	XP_016885038.1:p.Arg207Pro
XM_017029550.1:c.509G>C	XP_016885039.1:p.Arg170Pro
XM_017029551.2:c.-125G>C	XP_016885040.1:n.-125G>C
NM_000252.3:c.620G>C MANE Select	NP_000243.1:p.Arg207Pro
NM_001376906.1:c.620G>C	NP_001363835.1:p.Arg207Pro
NM_001376907.1:c.509G>C	NP_001363836.1:p.Arg170Pro
NM_001376908.1:c.620G>C	NP_001363837.1:p.Arg207Pro