Canonical Allele Identifier: CA415251221

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150619070G>C , CM000685.2:g.150619070G>C	GRCh38
NC_000023.10:g.149787543G>C , CM000685.1:g.149787543G>C	GRCh37
NC_000023.9:g.149538201G>C	NCBI36
NG_008199.1:g.55497G>C , LRG_839:g.55497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.137-19873G>C	ENSP00000509844.1:n.137-19873G>C
ENST00000685439.1:c.30G>C	ENSP00000508454.1:p.Gln10His
ENST00000685944.1:c.375G>C	ENSP00000509266.1:p.Gln125His
ENST00000687215.1:c.90G>C	ENSP00000509706.1:p.Gln30His
ENST00000687365.1:n.430G>C
ENST00000688152.1:c.375G>C	ENSP00000509360.1:p.Gln125His
ENST00000688403.1:c.-300-19873G>C	ENSP00000508944.1:n.-300-19873G>C
ENST00000689314.1:c.420G>C	ENSP00000510607.1:p.Gln140His
ENST00000689694.1:c.375G>C	ENSP00000508718.1:p.Gln125His
ENST00000689810.1:c.375G>C	ENSP00000510635.1:p.Gln125His
ENST00000690282.1:c.-300-19873G>C	ENSP00000509809.1:n.-300-19873G>C
ENST00000690351.1:c.169G>C	ENSP00000509728.1:p.Gly57Arg
ENST00000691232.1:c.30G>C	ENSP00000509675.1:p.Gln10His
ENST00000691686.1:c.375G>C	ENSP00000509784.1:p.Gln125His
ENST00000691851.1:c.375G>C	ENSP00000510106.1:p.Gln125His
ENST00000692015.1:c.232-19873G>C	ENSP00000510634.1:n.232-19873G>C
ENST00000692638.1:c.*124G>C	ENSP00000509412.1:n.*124G>C
ENST00000692852.1:c.375G>C	ENSP00000510337.1:p.Gln125His
ENST00000692915.1:c.*370G>C	ENSP00000508547.1:n.*370G>C
ENST00000370396.7:c.375G>C MANE Select	ENSP00000359423.3:p.Gln125His
ENST00000306167.11:n.260-18G>C
ENST00000370396.6:c.375G>C	ENSP00000359423.2:p.Gln125His
ENST00000424519.1:c.232-19873G>C	ENSP00000400699.1:n.232-19873G>C
ENST00000490530.1:n.314G>C
NM_000252.2:c.375G>C , LRG_839t1:c.375G>C	NP_000243.1:p.Gln125His
XM_005274687.2:c.375G>C	XP_005274744.1:p.Gln125His
XM_011531170.1:c.441G>C	XP_011529472.1:p.Gln147His
XM_011531171.1:c.420G>C	XP_011529473.1:p.Gln140His
XM_011531172.1:c.420G>C	XP_011529474.1:p.Gln140His
XM_011531173.1:c.375G>C	XP_011529475.1:p.Gln125His
XM_011531173.2:c.375G>C	XP_011529475.1:p.Gln125His
XM_017029547.1:c.420G>C	XP_016885036.1:p.Gln140His
XM_017029548.1:c.420G>C	XP_016885037.1:p.Gln140His
XM_017029549.1:c.375G>C	XP_016885038.1:p.Gln125His
XM_017029550.1:c.264G>C	XP_016885039.1:p.Gln88His
NM_000252.3:c.375G>C MANE Select	NP_000243.1:p.Gln125His
NM_001376906.1:c.375G>C	NP_001363835.1:p.Gln125His
NM_001376907.1:c.264G>C	NP_001363836.1:p.Gln88His
NM_001376908.1:c.375G>C	NP_001363837.1:p.Gln125His