Canonical Allele Identifier: CA271890

Gene: MTM1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150639027G>T , CM000685.2:g.150639027G>T	GRCh38
NC_000023.10:g.149807500G>T , CM000685.1:g.149807500G>T	GRCh37
NC_000023.9:g.149558158G>T	NCBI36
NG_008199.1:g.75454G>T , LRG_839:g.75454G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.*61+1G>T	ENSP00000509844.1:n.*61+1G>T
ENST00000685439.1:c.183+1G>T	ENSP00000508454.1:n.183+1G>T
ENST00000685944.1:c.528+1G>T	ENSP00000509266.1:n.528+1G>T
ENST00000687215.1:c.*283+1G>T	ENSP00000509706.1:n.*283+1G>T
ENST00000688152.1:c.528+1G>T	ENSP00000509360.1:n.528+1G>T
ENST00000688403.1:c.-217+1G>T	ENSP00000508944.1:n.-217+1G>T
ENST00000689314.1:c.573+1G>T	ENSP00000510607.1:n.573+1G>T
ENST00000689694.1:c.528+1G>T	ENSP00000508718.1:n.528+1G>T
ENST00000689810.1:c.*177+1G>T	ENSP00000510635.1:n.*177+1G>T
ENST00000690282.1:c.-217+1G>T	ENSP00000509809.1:n.-217+1G>T
ENST00000690351.1:c.*124+1G>T	ENSP00000509728.1:n.*124+1G>T
ENST00000691232.1:c.183+1G>T	ENSP00000509675.1:n.183+1G>T
ENST00000691686.1:c.528+1G>T	ENSP00000509784.1:n.528+1G>T
ENST00000691851.1:c.528+1G>T	ENSP00000510106.1:n.528+1G>T
ENST00000692015.1:c.315+1G>T	ENSP00000510634.1:n.315+1G>T
ENST00000692638.1:c.*277+1G>T	ENSP00000509412.1:n.*277+1G>T
ENST00000692852.1:c.528+1G>T	ENSP00000510337.1:n.528+1G>T
ENST00000692915.1:c.*679+1G>T	ENSP00000508547.1:n.*679+1G>T
ENST00000370396.7:c.528+1G>T MANE Select	ENSP00000359423.3:n.528+1G>T
ENST00000306167.11:n.395+1G>T
ENST00000370396.6:c.528+1G>T	ENSP00000359423.2:n.528+1G>T
ENST00000490530.1:n.467+1G>T
NM_000252.2:c.528+1G>T , LRG_839t1:c.528+1G>T	NP_000243.1:n.528+1G>T
XM_005274687.2:c.528+1G>T	XP_005274744.1:n.528+1G>T
XM_011531170.1:c.594+1G>T	XP_011529472.1:n.594+1G>T
XM_011531171.1:c.573+1G>T	XP_011529473.1:n.573+1G>T
XM_011531172.1:c.573+1G>T	XP_011529474.1:n.573+1G>T
XM_011531173.1:c.528+1G>T	XP_011529475.1:n.528+1G>T
XM_011531173.2:c.528+1G>T	XP_011529475.1:n.528+1G>T
XM_017029547.1:c.573+1G>T	XP_016885036.1:n.573+1G>T
XM_017029548.1:c.573+1G>T	XP_016885037.1:n.573+1G>T
XM_017029549.1:c.528+1G>T	XP_016885038.1:n.528+1G>T
XM_017029550.1:c.417+1G>T	XP_016885039.1:n.417+1G>T
XM_017029551.2:c.-217+1G>T	XP_016885040.1:n.-217+1G>T
NM_000252.3:c.528+1G>T MANE Select	NP_000243.1:n.528+1G>T
NM_001376906.1:c.528+1G>T	NP_001363835.1:n.528+1G>T
NM_001376907.1:c.417+1G>T	NP_001363836.1:n.417+1G>T
NM_001376908.1:c.528+1G>T	NP_001363837.1:n.528+1G>T