Canonical Allele Identifier: CA519113278

Gene: MTM1

Linked Data

• gnomAD v4: X-150641358-T-C
• MyVariant Identifiers: chrX:g.149809831T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641358T>C , CM000685.2:g.150641358T>C	GRCh38
NC_000023.10:g.149809831T>C , CM000685.1:g.149809831T>C	GRCh37
NC_000023.9:g.149560489T>C	NCBI36
NG_008199.1:g.77785T>C , LRG_839:g.77785T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*151T>C	ENSP00000509844.1:n.*151T>C
ENST00000685439.1:c.273T>C	ENSP00000508454.1:p.Tyr91=
ENST00000685944.1:c.618T>C	ENSP00000509266.1:p.Tyr206=
ENST00000686212.1:n.220T>C
ENST00000687215.1:c.*373T>C	ENSP00000509706.1:n.*373T>C
ENST00000688152.1:c.*62T>C	ENSP00000509360.1:n.*62T>C
ENST00000688403.1:c.-127T>C	ENSP00000508944.1:n.-127T>C
ENST00000689314.1:c.663T>C	ENSP00000510607.1:p.Tyr221=
ENST00000689694.1:c.618T>C	ENSP00000508718.1:p.Tyr206=
ENST00000689810.1:c.*267T>C	ENSP00000510635.1:n.*267T>C
ENST00000690282.1:c.-127T>C	ENSP00000509809.1:n.-127T>C
ENST00000690351.1:c.*270T>C	ENSP00000509728.1:n.*270T>C
ENST00000691232.1:c.273T>C	ENSP00000509675.1:p.Tyr91=
ENST00000691482.1:n.1633T>C
ENST00000691686.1:c.618T>C	ENSP00000509784.1:p.Tyr206=
ENST00000691851.1:c.618T>C	ENSP00000510106.1:p.Tyr206=
ENST00000692015.1:c.405T>C	ENSP00000510634.1:p.Tyr135=
ENST00000692638.1:c.*423T>C	ENSP00000509412.1:n.*423T>C
ENST00000692852.1:c.618T>C	ENSP00000510337.1:p.Tyr206=
ENST00000692915.1:c.*825T>C	ENSP00000508547.1:n.*825T>C
ENST00000370396.7:c.618T>C MANE Select	ENSP00000359423.3:p.Tyr206=
ENST00000306167.11:n.485T>C
ENST00000370396.6:c.618T>C	ENSP00000359423.2:p.Tyr206=
ENST00000490530.1:n.557T>C
NM_000252.2:c.618T>C , LRG_839t1:c.618T>C	NP_000243.1:p.Tyr206=
XM_005274687.2:c.618T>C	XP_005274744.1:p.Tyr206=
XM_011531170.1:c.684T>C	XP_011529472.1:p.Tyr228=
XM_011531171.1:c.663T>C	XP_011529473.1:p.Tyr221=
XM_011531172.1:c.663T>C	XP_011529474.1:p.Tyr221=
XM_011531173.1:c.618T>C	XP_011529475.1:p.Tyr206=
XM_011531173.2:c.618T>C	XP_011529475.1:p.Tyr206=
XM_017029547.1:c.663T>C	XP_016885036.1:p.Tyr221=
XM_017029548.1:c.663T>C	XP_016885037.1:p.Tyr221=
XM_017029549.1:c.618T>C	XP_016885038.1:p.Tyr206=
XM_017029550.1:c.507T>C	XP_016885039.1:p.Tyr169=
XM_017029551.2:c.-127T>C	XP_016885040.1:n.-127T>C
NM_000252.3:c.618T>C MANE Select	NP_000243.1:p.Tyr206=
NM_001376906.1:c.618T>C	NP_001363835.1:p.Tyr206=
NM_001376907.1:c.507T>C	NP_001363836.1:p.Tyr169=
NM_001376908.1:c.618T>C	NP_001363837.1:p.Tyr206=