Canonical Allele Identifier: CA645104744

Gene: MTM1

Linked Data

• dbSNP Id: rs781883906
• gnomAD v2: X-149828824-G-C
• gnomAD v4: X-150660351-G-C
• MyVariant Identifiers: chrX:g.149828824G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150660351G>C , CM000685.2:g.150660351G>C	GRCh38
NC_000023.10:g.149828824G>C , CM000685.1:g.149828824G>C	GRCh37
NC_000023.9:g.149579482G>C	NCBI36
NG_008199.1:g.96778G>C , LRG_839:g.96778G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*887-20G>C	ENSP00000509844.1:n.*887-20G>C
ENST00000685439.1:c.1009-20G>C	ENSP00000508454.1:n.1009-20G>C
ENST00000685944.1:c.1354-20G>C	ENSP00000509266.1:n.1354-20G>C
ENST00000686212.1:n.956-20G>C
ENST00000687215.1:c.*1109-20G>C	ENSP00000509706.1:n.*1109-20G>C
ENST00000688152.1:c.*798-20G>C	ENSP00000509360.1:n.*798-20G>C
ENST00000688403.1:c.610-20G>C	ENSP00000508944.1:n.610-20G>C
ENST00000689314.1:c.1399-20G>C	ENSP00000510607.1:n.1399-20G>C
ENST00000689694.1:c.1354-20G>C	ENSP00000508718.1:n.1354-20G>C
ENST00000689810.1:c.*1003-20G>C	ENSP00000510635.1:n.*1003-20G>C
ENST00000690282.1:c.610-20G>C	ENSP00000509809.1:n.610-20G>C
ENST00000690351.1:c.*1006-20G>C	ENSP00000509728.1:n.*1006-20G>C
ENST00000691232.1:c.1009-20G>C	ENSP00000509675.1:n.1009-20G>C
ENST00000691482.1:n.2369-20G>C
ENST00000691686.1:c.1261-20G>C	ENSP00000509784.1:n.1261-20G>C
ENST00000691851.1:c.1053+10450G>C	ENSP00000510106.1:n.1053+10450G>C
ENST00000692015.1:c.1141-20G>C	ENSP00000510634.1:n.1141-20G>C
ENST00000692638.1:c.*1152-20G>C	ENSP00000509412.1:n.*1152-20G>C
ENST00000692852.1:c.1165-20G>C	ENSP00000510337.1:n.1165-20G>C
ENST00000692915.1:c.*1500-20G>C	ENSP00000508547.1:n.*1500-20G>C
ENST00000370396.7:c.1354-20G>C MANE Select	ENSP00000359423.3:n.1354-20G>C
ENST00000306167.11:n.1221-20G>C
ENST00000370396.6:c.1354-20G>C	ENSP00000359423.2:n.1354-20G>C
NM_000252.2:c.1354-20G>C , LRG_839t1:c.1354-20G>C	NP_000243.1:n.1354-20G>C
XM_005274687.2:c.1354-20G>C	XP_005274744.1:n.1354-20G>C
XM_011531170.1:c.1420-20G>C	XP_011529472.1:n.1420-20G>C
XM_011531171.1:c.1399-20G>C	XP_011529473.1:n.1399-20G>C
XM_011531172.1:c.1399-20G>C	XP_011529474.1:n.1399-20G>C
XM_011531173.1:c.1354-20G>C	XP_011529475.1:n.1354-20G>C
XM_011531173.2:c.1354-20G>C	XP_011529475.1:n.1354-20G>C
XM_017029547.1:c.1399-20G>C	XP_016885036.1:n.1399-20G>C
XM_017029548.1:c.1399-20G>C	XP_016885037.1:n.1399-20G>C
XM_017029549.1:c.1354-20G>C	XP_016885038.1:n.1354-20G>C
XM_017029550.1:c.1243-20G>C	XP_016885039.1:n.1243-20G>C
XM_017029551.2:c.610-20G>C	XP_016885040.1:n.610-20G>C
NM_000252.3:c.1354-20G>C MANE Select	NP_000243.1:n.1354-20G>C
NM_001376906.1:c.1354-20G>C	NP_001363835.1:n.1354-20G>C
NM_001376907.1:c.1243-20G>C	NP_001363836.1:n.1243-20G>C
NM_001376908.1:c.1354-20G>C	NP_001363837.1:n.1354-20G>C