Canonical Allele Identifier: CA519113266

Gene: MTM1

Linked Data

• ClinVar Variation Id: 1532612
• ClinVar RCV Id: RCV002102131
• dbSNP Id: rs1557413854
• gnomAD v2: X-149809816-T-C
• gnomAD v4: X-150641343-T-C
• MyVariant Identifiers: chrX:g.149809816T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641343T>C , CM000685.2:g.150641343T>C	GRCh38
NC_000023.10:g.149809816T>C , CM000685.1:g.149809816T>C	GRCh37
NC_000023.9:g.149560474T>C	NCBI36
NG_008199.1:g.77770T>C , LRG_839:g.77770T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*136T>C	ENSP00000509844.1:n.*136T>C
ENST00000685439.1:c.258T>C	ENSP00000508454.1:p.Leu86=
ENST00000685944.1:c.603T>C	ENSP00000509266.1:p.Leu201=
ENST00000686212.1:n.205T>C
ENST00000687215.1:c.*358T>C	ENSP00000509706.1:n.*358T>C
ENST00000688152.1:c.*47T>C	ENSP00000509360.1:n.*47T>C
ENST00000688403.1:c.-142T>C	ENSP00000508944.1:n.-142T>C
ENST00000689314.1:c.648T>C	ENSP00000510607.1:p.Leu216=
ENST00000689694.1:c.603T>C	ENSP00000508718.1:p.Leu201=
ENST00000689810.1:c.*252T>C	ENSP00000510635.1:n.*252T>C
ENST00000690282.1:c.-142T>C	ENSP00000509809.1:n.-142T>C
ENST00000690351.1:c.*255T>C	ENSP00000509728.1:n.*255T>C
ENST00000691232.1:c.258T>C	ENSP00000509675.1:p.Leu86=
ENST00000691482.1:n.1618T>C
ENST00000691686.1:c.603T>C	ENSP00000509784.1:p.Leu201=
ENST00000691851.1:c.603T>C	ENSP00000510106.1:p.Leu201=
ENST00000692015.1:c.390T>C	ENSP00000510634.1:p.Leu130=
ENST00000692638.1:c.*408T>C	ENSP00000509412.1:n.*408T>C
ENST00000692852.1:c.603T>C	ENSP00000510337.1:p.Leu201=
ENST00000692915.1:c.*810T>C	ENSP00000508547.1:n.*810T>C
ENST00000370396.7:c.603T>C MANE Select	ENSP00000359423.3:p.Leu201=
ENST00000306167.11:n.470T>C
ENST00000370396.6:c.603T>C	ENSP00000359423.2:p.Leu201=
ENST00000490530.1:n.542T>C
NM_000252.2:c.603T>C , LRG_839t1:c.603T>C	NP_000243.1:p.Leu201=
XM_005274687.2:c.603T>C	XP_005274744.1:p.Leu201=
XM_011531170.1:c.669T>C	XP_011529472.1:p.Leu223=
XM_011531171.1:c.648T>C	XP_011529473.1:p.Leu216=
XM_011531172.1:c.648T>C	XP_011529474.1:p.Leu216=
XM_011531173.1:c.603T>C	XP_011529475.1:p.Leu201=
XM_011531173.2:c.603T>C	XP_011529475.1:p.Leu201=
XM_017029547.1:c.648T>C	XP_016885036.1:p.Leu216=
XM_017029548.1:c.648T>C	XP_016885037.1:p.Leu216=
XM_017029549.1:c.603T>C	XP_016885038.1:p.Leu201=
XM_017029550.1:c.492T>C	XP_016885039.1:p.Leu164=
XM_017029551.2:c.-142T>C	XP_016885040.1:n.-142T>C
NM_000252.3:c.603T>C MANE Select	NP_000243.1:p.Leu201=
NM_001376906.1:c.603T>C	NP_001363835.1:p.Leu201=
NM_001376907.1:c.492T>C	NP_001363836.1:p.Leu164=
NM_001376908.1:c.603T>C	NP_001363837.1:p.Leu201=