Canonical Allele Identifier: CA415256529

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149814267A>C (hg19) ; chrX:g.150645794A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150645794A>C , CM000685.2:g.150645794A>C	GRCh38
NC_000023.10:g.149814267A>C , CM000685.1:g.149814267A>C	GRCh37
NC_000023.9:g.149564925A>C	NCBI36
NG_008199.1:g.82221A>C , LRG_839:g.82221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*323A>C	ENSP00000509844.1:n.*323A>C
ENST00000685439.1:c.445A>C	ENSP00000508454.1:p.Ile149Leu
ENST00000685944.1:c.790A>C	ENSP00000509266.1:p.Ile264Leu
ENST00000686212.1:n.392A>C
ENST00000687215.1:c.*545A>C	ENSP00000509706.1:n.*545A>C
ENST00000688152.1:c.*234A>C	ENSP00000509360.1:n.*234A>C
ENST00000688403.1:c.46A>C	ENSP00000508944.1:p.Ile16Leu
ENST00000689314.1:c.835A>C	ENSP00000510607.1:p.Ile279Leu
ENST00000689694.1:c.790A>C	ENSP00000508718.1:p.Ile264Leu
ENST00000689810.1:c.*439A>C	ENSP00000510635.1:n.*439A>C
ENST00000690282.1:c.46A>C	ENSP00000509809.1:p.Ile16Leu
ENST00000690351.1:c.*442A>C	ENSP00000509728.1:n.*442A>C
ENST00000691232.1:c.445A>C	ENSP00000509675.1:p.Ile149Leu
ENST00000691482.1:n.1805A>C
ENST00000691686.1:c.790A>C	ENSP00000509784.1:p.Ile264Leu
ENST00000691851.1:c.790A>C	ENSP00000510106.1:p.Ile264Leu
ENST00000692015.1:c.577A>C	ENSP00000510634.1:p.Ile193Leu
ENST00000692638.1:c.*595A>C	ENSP00000509412.1:n.*595A>C
ENST00000692852.1:c.679-3922A>C	ENSP00000510337.1:n.679-3922A>C
ENST00000692915.1:c.*997A>C	ENSP00000508547.1:n.*997A>C
ENST00000370396.7:c.790A>C MANE Select	ENSP00000359423.3:p.Ile264Leu
ENST00000306167.11:n.657A>C
ENST00000370396.6:c.790A>C	ENSP00000359423.2:p.Ile264Leu
ENST00000490530.1:n.729A>C
NM_000252.2:c.790A>C , LRG_839t1:c.790A>C	NP_000243.1:p.Ile264Leu
XM_005274687.2:c.790A>C	XP_005274744.1:p.Ile264Leu
XM_011531170.1:c.856A>C	XP_011529472.1:p.Ile286Leu
XM_011531171.1:c.835A>C	XP_011529473.1:p.Ile279Leu
XM_011531172.1:c.835A>C	XP_011529474.1:p.Ile279Leu
XM_011531173.1:c.790A>C	XP_011529475.1:p.Ile264Leu
XM_011531173.2:c.790A>C	XP_011529475.1:p.Ile264Leu
XM_017029547.1:c.835A>C	XP_016885036.1:p.Ile279Leu
XM_017029548.1:c.835A>C	XP_016885037.1:p.Ile279Leu
XM_017029549.1:c.790A>C	XP_016885038.1:p.Ile264Leu
XM_017029550.1:c.679A>C	XP_016885039.1:p.Ile227Leu
XM_017029551.2:c.46A>C	XP_016885040.1:p.Ile16Leu
NM_000252.3:c.790A>C MANE Select	NP_000243.1:p.Ile264Leu
NM_001376906.1:c.790A>C	NP_001363835.1:p.Ile264Leu
NM_001376907.1:c.679A>C	NP_001363836.1:p.Ile227Leu
NM_001376908.1:c.790A>C	NP_001363837.1:p.Ile264Leu