Canonical Allele Identifier: CA415256066

Gene: MTM1

Linked Data

• ClinVar Variation Id: 1319478
• ClinVar RCV Id: RCV003237481
• dbSNP Id: rs2148488487
• MyVariant Identifiers: chrX:g.149809794T>C (hg19) ; chrX:g.150641321T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150641321T>C , CM000685.2:g.150641321T>C	GRCh38
NC_000023.10:g.149809794T>C , CM000685.1:g.149809794T>C	GRCh37
NC_000023.9:g.149560452T>C	NCBI36
NG_008199.1:g.77748T>C , LRG_839:g.77748T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*114T>C	ENSP00000509844.1:n.*114T>C
ENST00000685439.1:c.236T>C	ENSP00000508454.1:p.Leu79Pro
ENST00000685944.1:c.581T>C	ENSP00000509266.1:p.Leu194Pro
ENST00000686212.1:n.183T>C
ENST00000687215.1:c.*336T>C	ENSP00000509706.1:n.*336T>C
ENST00000688152.1:c.*25T>C	ENSP00000509360.1:n.*25T>C
ENST00000688403.1:c.-164T>C	ENSP00000508944.1:n.-164T>C
ENST00000689314.1:c.626T>C	ENSP00000510607.1:p.Leu209Pro
ENST00000689694.1:c.581T>C	ENSP00000508718.1:p.Leu194Pro
ENST00000689810.1:c.*230T>C	ENSP00000510635.1:n.*230T>C
ENST00000690282.1:c.-164T>C	ENSP00000509809.1:n.-164T>C
ENST00000690351.1:c.*233T>C	ENSP00000509728.1:n.*233T>C
ENST00000691232.1:c.236T>C	ENSP00000509675.1:p.Leu79Pro
ENST00000691482.1:n.1596T>C
ENST00000691686.1:c.581T>C	ENSP00000509784.1:p.Leu194Pro
ENST00000691851.1:c.581T>C	ENSP00000510106.1:p.Leu194Pro
ENST00000692015.1:c.368T>C	ENSP00000510634.1:p.Leu123Pro
ENST00000692638.1:c.*386T>C	ENSP00000509412.1:n.*386T>C
ENST00000692852.1:c.581T>C	ENSP00000510337.1:p.Leu194Pro
ENST00000692915.1:c.*788T>C	ENSP00000508547.1:n.*788T>C
ENST00000370396.7:c.581T>C MANE Select	ENSP00000359423.3:p.Leu194Pro
ENST00000306167.11:n.448T>C
ENST00000370396.6:c.581T>C	ENSP00000359423.2:p.Leu194Pro
ENST00000490530.1:n.520T>C
NM_000252.2:c.581T>C , LRG_839t1:c.581T>C	NP_000243.1:p.Leu194Pro
XM_005274687.2:c.581T>C	XP_005274744.1:p.Leu194Pro
XM_011531170.1:c.647T>C	XP_011529472.1:p.Leu216Pro
XM_011531171.1:c.626T>C	XP_011529473.1:p.Leu209Pro
XM_011531172.1:c.626T>C	XP_011529474.1:p.Leu209Pro
XM_011531173.1:c.581T>C	XP_011529475.1:p.Leu194Pro
XM_011531173.2:c.581T>C	XP_011529475.1:p.Leu194Pro
XM_017029547.1:c.626T>C	XP_016885036.1:p.Leu209Pro
XM_017029548.1:c.626T>C	XP_016885037.1:p.Leu209Pro
XM_017029549.1:c.581T>C	XP_016885038.1:p.Leu194Pro
XM_017029550.1:c.470T>C	XP_016885039.1:p.Leu157Pro
XM_017029551.2:c.-164T>C	XP_016885040.1:n.-164T>C
NM_000252.3:c.581T>C MANE Select	NP_000243.1:p.Leu194Pro
NM_001376906.1:c.581T>C	NP_001363835.1:p.Leu194Pro
NM_001376907.1:c.470T>C	NP_001363836.1:p.Leu157Pro
NM_001376908.1:c.581T>C	NP_001363837.1:p.Leu194Pro