Canonical Allele Identifier: CA519113282

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149809834T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641361T>C , CM000685.2:g.150641361T>C	GRCh38
NC_000023.10:g.149809834T>C , CM000685.1:g.149809834T>C	GRCh37
NC_000023.9:g.149560492T>C	NCBI36
NG_008199.1:g.77788T>C , LRG_839:g.77788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*154T>C	ENSP00000509844.1:n.*154T>C
ENST00000685439.1:c.276T>C	ENSP00000508454.1:p.Arg92=
ENST00000685944.1:c.621T>C	ENSP00000509266.1:p.Arg207=
ENST00000686212.1:n.223T>C
ENST00000687215.1:c.*376T>C	ENSP00000509706.1:n.*376T>C
ENST00000688152.1:c.*65T>C	ENSP00000509360.1:n.*65T>C
ENST00000688403.1:c.-124T>C	ENSP00000508944.1:n.-124T>C
ENST00000689314.1:c.666T>C	ENSP00000510607.1:p.Arg222=
ENST00000689694.1:c.621T>C	ENSP00000508718.1:p.Arg207=
ENST00000689810.1:c.*270T>C	ENSP00000510635.1:n.*270T>C
ENST00000690282.1:c.-124T>C	ENSP00000509809.1:n.-124T>C
ENST00000690351.1:c.*273T>C	ENSP00000509728.1:n.*273T>C
ENST00000691232.1:c.276T>C	ENSP00000509675.1:p.Arg92=
ENST00000691482.1:n.1636T>C
ENST00000691686.1:c.621T>C	ENSP00000509784.1:p.Arg207=
ENST00000691851.1:c.621T>C	ENSP00000510106.1:p.Arg207=
ENST00000692015.1:c.408T>C	ENSP00000510634.1:p.Arg136=
ENST00000692638.1:c.*426T>C	ENSP00000509412.1:n.*426T>C
ENST00000692852.1:c.621T>C	ENSP00000510337.1:p.Arg207=
ENST00000692915.1:c.*828T>C	ENSP00000508547.1:n.*828T>C
ENST00000370396.7:c.621T>C MANE Select	ENSP00000359423.3:p.Arg207=
ENST00000306167.11:n.488T>C
ENST00000370396.6:c.621T>C	ENSP00000359423.2:p.Arg207=
ENST00000490530.1:n.560T>C
NM_000252.2:c.621T>C , LRG_839t1:c.621T>C	NP_000243.1:p.Arg207=
XM_005274687.2:c.621T>C	XP_005274744.1:p.Arg207=
XM_011531170.1:c.687T>C	XP_011529472.1:p.Arg229=
XM_011531171.1:c.666T>C	XP_011529473.1:p.Arg222=
XM_011531172.1:c.666T>C	XP_011529474.1:p.Arg222=
XM_011531173.1:c.621T>C	XP_011529475.1:p.Arg207=
XM_011531173.2:c.621T>C	XP_011529475.1:p.Arg207=
XM_017029547.1:c.666T>C	XP_016885036.1:p.Arg222=
XM_017029548.1:c.666T>C	XP_016885037.1:p.Arg222=
XM_017029549.1:c.621T>C	XP_016885038.1:p.Arg207=
XM_017029550.1:c.510T>C	XP_016885039.1:p.Arg170=
XM_017029551.2:c.-124T>C	XP_016885040.1:n.-124T>C
NM_000252.3:c.621T>C MANE Select	NP_000243.1:p.Arg207=
NM_001376906.1:c.621T>C	NP_001363835.1:p.Arg207=
NM_001376907.1:c.510T>C	NP_001363836.1:p.Arg170=
NM_001376908.1:c.621T>C	NP_001363837.1:p.Arg207=