Canonical Allele Identifier: CA415258884

Gene: MTM1

Linked Data

• dbSNP Id: rs587783765
• gnomAD v2: X-149826474-A-C
• gnomAD v3: X-150658001-A-C
• gnomAD v4: X-150658001-A-C
• MyVariant Identifiers: chrX:g.149826474A>C (hg19) ; chrX:g.150658001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150658001A>C , CM000685.2:g.150658001A>C	GRCh38
NC_000023.10:g.149826474A>C , CM000685.1:g.149826474A>C	GRCh37
NC_000023.9:g.149577132A>C	NCBI36
NG_008199.1:g.94428A>C , LRG_839:g.94428A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*767A>C	ENSP00000509844.1:n.*767A>C
ENST00000685439.1:c.889A>C	ENSP00000508454.1:p.Ile297Leu
ENST00000685944.1:c.1234A>C	ENSP00000509266.1:p.Ile412Leu
ENST00000686212.1:n.836A>C
ENST00000687215.1:c.*989A>C	ENSP00000509706.1:n.*989A>C
ENST00000688152.1:c.*678A>C	ENSP00000509360.1:n.*678A>C
ENST00000688403.1:c.490A>C	ENSP00000508944.1:p.Ile164Leu
ENST00000689314.1:c.1279A>C	ENSP00000510607.1:p.Ile427Leu
ENST00000689694.1:c.1234A>C	ENSP00000508718.1:p.Ile412Leu
ENST00000689810.1:c.*883A>C	ENSP00000510635.1:n.*883A>C
ENST00000690282.1:c.490A>C	ENSP00000509809.1:p.Ile164Leu
ENST00000690351.1:c.*886A>C	ENSP00000509728.1:n.*886A>C
ENST00000691232.1:c.889A>C	ENSP00000509675.1:p.Ile297Leu
ENST00000691482.1:n.2249A>C
ENST00000691686.1:c.1234A>C	ENSP00000509784.1:p.Ile412Leu
ENST00000691851.1:c.1053+8100A>C	ENSP00000510106.1:n.1053+8100A>C
ENST00000692015.1:c.1021A>C	ENSP00000510634.1:p.Ile341Leu
ENST00000692638.1:c.*1039A>C	ENSP00000509412.1:n.*1039A>C
ENST00000692852.1:c.1045A>C	ENSP00000510337.1:p.Ile349Leu
ENST00000692915.1:c.*1380A>C	ENSP00000508547.1:n.*1380A>C
ENST00000370396.7:c.1234A>C MANE Select	ENSP00000359423.3:p.Ile412Leu
ENST00000306167.11:n.1101A>C
ENST00000370396.6:c.1234A>C	ENSP00000359423.2:p.Ile412Leu
NM_000252.2:c.1234A>C , LRG_839t1:c.1234A>C	NP_000243.1:p.Ile412Leu
XM_005274687.2:c.1234A>C	XP_005274744.1:p.Ile412Leu
XM_011531170.1:c.1300A>C	XP_011529472.1:p.Ile434Leu
XM_011531171.1:c.1279A>C	XP_011529473.1:p.Ile427Leu
XM_011531172.1:c.1279A>C	XP_011529474.1:p.Ile427Leu
XM_011531173.1:c.1234A>C	XP_011529475.1:p.Ile412Leu
XM_011531173.2:c.1234A>C	XP_011529475.1:p.Ile412Leu
XM_017029547.1:c.1279A>C	XP_016885036.1:p.Ile427Leu
XM_017029548.1:c.1279A>C	XP_016885037.1:p.Ile427Leu
XM_017029549.1:c.1234A>C	XP_016885038.1:p.Ile412Leu
XM_017029550.1:c.1123A>C	XP_016885039.1:p.Ile375Leu
XM_017029551.2:c.490A>C	XP_016885040.1:p.Ile164Leu
NM_000252.3:c.1234A>C MANE Select	NP_000243.1:p.Ile412Leu
NM_001376906.1:c.1234A>C	NP_001363835.1:p.Ile412Leu
NM_001376907.1:c.1123A>C	NP_001363836.1:p.Ile375Leu
NM_001376908.1:c.1234A>C	NP_001363837.1:p.Ile412Leu