Canonical Allele Identifier: CA415249392

Gene: MTM1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150614589G>C , CM000685.2:g.150614589G>C	GRCh38
NC_000023.10:g.149783062G>C , CM000685.1:g.149783062G>C	GRCh37
NC_000023.9:g.149533720G>C	NCBI36
NG_008199.1:g.51016G>C , LRG_839:g.51016G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684910.1:c.136+18019G>C	ENSP00000509844.1:n.136+18019G>C
ENST00000685439.1:c.-3-4449G>C	ENSP00000508454.1:n.-3-4449G>C
ENST00000685944.1:c.232G>C	ENSP00000509266.1:p.Asp78His
ENST00000687215.1:c.-54G>C	ENSP00000509706.1:n.-54G>C
ENST00000687365.1:n.287G>C
ENST00000688152.1:c.232G>C	ENSP00000509360.1:p.Asp78His
ENST00000688403.1:c.-300-24354G>C	ENSP00000508944.1:n.-300-24354G>C
ENST00000689314.1:c.277G>C	ENSP00000510607.1:p.Asp93His
ENST00000689694.1:c.232G>C	ENSP00000508718.1:p.Asp78His
ENST00000689810.1:c.232G>C	ENSP00000510635.1:p.Asp78His
ENST00000690282.1:c.-300-24354G>C	ENSP00000509809.1:n.-300-24354G>C
ENST00000690351.1:c.137-4449G>C	ENSP00000509728.1:n.137-4449G>C
ENST00000691232.1:c.-3-4449G>C	ENSP00000509675.1:n.-3-4449G>C
ENST00000691686.1:c.232G>C	ENSP00000509784.1:p.Asp78His
ENST00000691851.1:c.232G>C	ENSP00000510106.1:p.Asp78His
ENST00000692015.1:c.231+15903G>C	ENSP00000510634.1:n.231+15903G>C
ENST00000692638.1:c.137G>C	ENSP00000509412.1:p.Gly46Ala
ENST00000692852.1:c.232G>C	ENSP00000510337.1:p.Asp78His
ENST00000692915.1:c.*227G>C	ENSP00000508547.1:n.*227G>C
ENST00000370396.7:c.232G>C MANE Select	ENSP00000359423.3:p.Asp78His
ENST00000306167.11:n.260-4499G>C
ENST00000370396.6:c.232G>C	ENSP00000359423.2:p.Asp78His
ENST00000424519.1:c.231+15903G>C	ENSP00000400699.1:n.231+15903G>C
ENST00000490530.1:n.171G>C
NM_000252.2:c.232G>C , LRG_839t1:c.232G>C	NP_000243.1:p.Asp78His
XM_005274687.2:c.232G>C	XP_005274744.1:p.Asp78His
XM_011531170.1:c.298G>C	XP_011529472.1:p.Asp100His
XM_011531171.1:c.277G>C	XP_011529473.1:p.Asp93His
XM_011531172.1:c.277G>C	XP_011529474.1:p.Asp93His
XM_011531173.1:c.232G>C	XP_011529475.1:p.Asp78His
XM_011531173.2:c.232G>C	XP_011529475.1:p.Asp78His
XM_017029547.1:c.277G>C	XP_016885036.1:p.Asp93His
XM_017029548.1:c.277G>C	XP_016885037.1:p.Asp93His
XM_017029549.1:c.232G>C	XP_016885038.1:p.Asp78His
XM_017029550.1:c.232-4449G>C	XP_016885039.1:n.232-4449G>C
NM_000252.3:c.232G>C MANE Select	NP_000243.1:p.Asp78His
NM_001376906.1:c.232G>C	NP_001363835.1:p.Asp78His
NM_001376907.1:c.232-4449G>C	NP_001363836.1:n.232-4449G>C
NM_001376908.1:c.232G>C	NP_001363837.1:p.Asp78His