Canonical Allele Identifier: CA10539123

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150639006G>C , CM000685.2:g.150639006G>C	GRCh38
NC_000023.10:g.149807479G>C , CM000685.1:g.149807479G>C	GRCh37
NC_000023.9:g.149558137G>C	NCBI36
NG_008199.1:g.75433G>C , LRG_839:g.75433G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000252.3:c.508G>C MANE Select	NP_000243.1:p.Val170Leu
ENST00000370396.7:c.508G>C MANE Select	ENSP00000359423.3:p.Val170Leu
NM_000252.2:c.508G>C , LRG_839t1:c.508G>C	NP_000243.1:p.Val170Leu
NM_001376906.1:c.508G>C	NP_001363835.1:p.Val170Leu
NM_001376907.1:c.397G>C	NP_001363836.1:p.Val133Leu
NM_001376908.1:c.508G>C	NP_001363837.1:p.Val170Leu
ENST00000306167.11:n.375G>C
ENST00000370396.6:c.508G>C	ENSP00000359423.2:p.Val170Leu
ENST00000424519.1:c.295G>C	ENSP00000400699.1:p.Val99Leu
ENST00000490530.1:n.447G>C
ENST00000684910.1:c.*41G>C	ENSP00000509844.1:n.*41G>C
ENST00000685439.1:c.163G>C	ENSP00000508454.1:p.Val55Leu
ENST00000685944.1:c.508G>C	ENSP00000509266.1:p.Val170Leu
ENST00000687215.1:c.*263G>C	ENSP00000509706.1:n.*263G>C
ENST00000688152.1:c.508G>C	ENSP00000509360.1:p.Val170Leu
ENST00000688403.1:c.-237G>C	ENSP00000508944.1:n.-237G>C
ENST00000689314.1:c.553G>C	ENSP00000510607.1:p.Val185Leu
ENST00000689694.1:c.508G>C	ENSP00000508718.1:p.Val170Leu
ENST00000689810.1:c.*157G>C	ENSP00000510635.1:n.*157G>C
ENST00000690282.1:c.-237G>C	ENSP00000509809.1:n.-237G>C
ENST00000690351.1:c.*104G>C	ENSP00000509728.1:n.*104G>C
ENST00000691232.1:c.163G>C	ENSP00000509675.1:p.Val55Leu
ENST00000691686.1:c.508G>C	ENSP00000509784.1:p.Val170Leu
ENST00000691851.1:c.508G>C	ENSP00000510106.1:p.Val170Leu
ENST00000692015.1:c.295G>C	ENSP00000510634.1:p.Val99Leu
ENST00000692638.1:c.*257G>C	ENSP00000509412.1:n.*257G>C
ENST00000692852.1:c.508G>C	ENSP00000510337.1:p.Val170Leu
ENST00000692915.1:c.*659G>C	ENSP00000508547.1:n.*659G>C
XM_005274687.2:c.508G>C	XP_005274744.1:p.Val170Leu
XM_011531170.1:c.574G>C	XP_011529472.1:p.Val192Leu
XM_011531171.1:c.553G>C	XP_011529473.1:p.Val185Leu
XM_011531172.1:c.553G>C	XP_011529474.1:p.Val185Leu
XM_011531173.1:c.508G>C	XP_011529475.1:p.Val170Leu
XM_011531173.2:c.508G>C	XP_011529475.1:p.Val170Leu
XM_017029547.1:c.553G>C	XP_016885036.1:p.Val185Leu
XM_017029548.1:c.553G>C	XP_016885037.1:p.Val185Leu
XM_017029549.1:c.508G>C	XP_016885038.1:p.Val170Leu
XM_017029550.1:c.397G>C	XP_016885039.1:p.Val133Leu
XM_017029551.2:c.-237G>C	XP_016885040.1:n.-237G>C