Canonical Allele Identifier: CA415256391

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645732G>A , CM000685.2:g.150645732G>A	GRCh38
NC_000023.10:g.149814205G>A , CM000685.1:g.149814205G>A	GRCh37
NC_000023.9:g.149564863G>A	NCBI36
NG_008199.1:g.82159G>A , LRG_839:g.82159G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000252.3:c.728G>A MANE Select	NP_000243.1:p.Ser243Asn
ENST00000370396.7:c.728G>A MANE Select	ENSP00000359423.3:p.Ser243Asn
NM_000252.2:c.728G>A , LRG_839t1:c.728G>A	NP_000243.1:p.Ser243Asn
NM_001376906.1:c.728G>A	NP_001363835.1:p.Ser243Asn
NM_001376907.1:c.617G>A	NP_001363836.1:p.Ser206Asn
NM_001376908.1:c.728G>A	NP_001363837.1:p.Ser243Asn
ENST00000306167.11:n.595G>A
ENST00000370396.6:c.728G>A	ENSP00000359423.2:p.Ser243Asn
ENST00000490530.1:n.667G>A
ENST00000684910.1:c.*261G>A	ENSP00000509844.1:n.*261G>A
ENST00000685439.1:c.383G>A	ENSP00000508454.1:p.Ser128Asn
ENST00000685944.1:c.728G>A	ENSP00000509266.1:p.Ser243Asn
ENST00000686212.1:n.330G>A
ENST00000687215.1:c.*483G>A	ENSP00000509706.1:n.*483G>A
ENST00000688152.1:c.*172G>A	ENSP00000509360.1:n.*172G>A
ENST00000688403.1:c.-17G>A	ENSP00000508944.1:n.-17G>A
ENST00000689314.1:c.773G>A	ENSP00000510607.1:p.Ser258Asn
ENST00000689694.1:c.728G>A	ENSP00000508718.1:p.Ser243Asn
ENST00000689810.1:c.*377G>A	ENSP00000510635.1:n.*377G>A
ENST00000690282.1:c.-17G>A	ENSP00000509809.1:n.-17G>A
ENST00000690351.1:c.*380G>A	ENSP00000509728.1:n.*380G>A
ENST00000691232.1:c.383G>A	ENSP00000509675.1:p.Ser128Asn
ENST00000691482.1:n.1743G>A
ENST00000691686.1:c.728G>A	ENSP00000509784.1:p.Ser243Asn
ENST00000691851.1:c.728G>A	ENSP00000510106.1:p.Ser243Asn
ENST00000692015.1:c.515G>A	ENSP00000510634.1:p.Ser172Asn
ENST00000692638.1:c.*533G>A	ENSP00000509412.1:n.*533G>A
ENST00000692852.1:c.679-3984G>A	ENSP00000510337.1:n.679-3984G>A
ENST00000692915.1:c.*935G>A	ENSP00000508547.1:n.*935G>A
XM_005274687.2:c.728G>A	XP_005274744.1:p.Ser243Asn
XM_011531170.1:c.794G>A	XP_011529472.1:p.Ser265Asn
XM_011531171.1:c.773G>A	XP_011529473.1:p.Ser258Asn
XM_011531172.1:c.773G>A	XP_011529474.1:p.Ser258Asn
XM_011531173.1:c.728G>A	XP_011529475.1:p.Ser243Asn
XM_011531173.2:c.728G>A	XP_011529475.1:p.Ser243Asn
XM_017029547.1:c.773G>A	XP_016885036.1:p.Ser258Asn
XM_017029548.1:c.773G>A	XP_016885037.1:p.Ser258Asn
XM_017029549.1:c.728G>A	XP_016885038.1:p.Ser243Asn
XM_017029550.1:c.617G>A	XP_016885039.1:p.Ser206Asn
XM_017029551.2:c.-17G>A	XP_016885040.1:n.-17G>A