Canonical Allele Identifier: CA519113238

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809768A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641295A>C , CM000685.2:g.150641295A>C	GRCh38
NC_000023.10:g.149809768A>C , CM000685.1:g.149809768A>C	GRCh37
NC_000023.9:g.149560426A>C	NCBI36
NG_008199.1:g.77722A>C , LRG_839:g.77722A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*88A>C	ENSP00000509844.1:n.*88A>C
ENST00000685439.1:c.210A>C	ENSP00000508454.1:p.Ile70=
ENST00000685944.1:c.555A>C	ENSP00000509266.1:p.Ile185=
ENST00000686212.1:n.157A>C
ENST00000687215.1:c.*310A>C	ENSP00000509706.1:n.*310A>C
ENST00000688152.1:c.611A>C	ENSP00000509360.1:p.Ter204Ser
ENST00000688403.1:c.-190A>C	ENSP00000508944.1:n.-190A>C
ENST00000689314.1:c.600A>C	ENSP00000510607.1:p.Ile200=
ENST00000689694.1:c.555A>C	ENSP00000508718.1:p.Ile185=
ENST00000689810.1:c.*204A>C	ENSP00000510635.1:n.*204A>C
ENST00000690282.1:c.-190A>C	ENSP00000509809.1:n.-190A>C
ENST00000690351.1:c.*207A>C	ENSP00000509728.1:n.*207A>C
ENST00000691232.1:c.210A>C	ENSP00000509675.1:p.Ile70=
ENST00000691482.1:n.1570A>C
ENST00000691686.1:c.555A>C	ENSP00000509784.1:p.Ile185=
ENST00000691851.1:c.555A>C	ENSP00000510106.1:p.Ile185=
ENST00000692015.1:c.342A>C	ENSP00000510634.1:p.Ile114=
ENST00000692638.1:c.*360A>C	ENSP00000509412.1:n.*360A>C
ENST00000692852.1:c.555A>C	ENSP00000510337.1:p.Ile185=
ENST00000692915.1:c.*762A>C	ENSP00000508547.1:n.*762A>C
ENST00000370396.7:c.555A>C MANE Select	ENSP00000359423.3:p.Ile185=
ENST00000306167.11:n.422A>C
ENST00000370396.6:c.555A>C	ENSP00000359423.2:p.Ile185=
ENST00000490530.1:n.494A>C
NM_000252.2:c.555A>C , LRG_839t1:c.555A>C	NP_000243.1:p.Ile185=
XM_005274687.2:c.555A>C	XP_005274744.1:p.Ile185=
XM_011531170.1:c.621A>C	XP_011529472.1:p.Ile207=
XM_011531171.1:c.600A>C	XP_011529473.1:p.Ile200=
XM_011531172.1:c.600A>C	XP_011529474.1:p.Ile200=
XM_011531173.1:c.555A>C	XP_011529475.1:p.Ile185=
XM_011531173.2:c.555A>C	XP_011529475.1:p.Ile185=
XM_017029547.1:c.600A>C	XP_016885036.1:p.Ile200=
XM_017029548.1:c.600A>C	XP_016885037.1:p.Ile200=
XM_017029549.1:c.555A>C	XP_016885038.1:p.Ile185=
XM_017029550.1:c.444A>C	XP_016885039.1:p.Ile148=
XM_017029551.2:c.-190A>C	XP_016885040.1:n.-190A>C
NM_000252.3:c.555A>C MANE Select	NP_000243.1:p.Ile185=
NM_001376906.1:c.555A>C	NP_001363835.1:p.Ile185=
NM_001376907.1:c.444A>C	NP_001363836.1:p.Ile148=
NM_001376908.1:c.555A>C	NP_001363837.1:p.Ile185=