Canonical Allele Identifier: CA519114776

Gene: MTM1

Linked Data

• MyVariant Identifiers: chrX:g.149826500T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.150658027T>C , CM000685.2:g.150658027T>C	GRCh38
NC_000023.10:g.149826500T>C , CM000685.1:g.149826500T>C	GRCh37
NC_000023.9:g.149577158T>C	NCBI36
NG_008199.1:g.94454T>C , LRG_839:g.94454T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684910.1:c.*793T>C	ENSP00000509844.1:n.*793T>C
ENST00000685439.1:c.915T>C	ENSP00000508454.1:p.Ser305=
ENST00000685944.1:c.1260T>C	ENSP00000509266.1:p.Ser420=
ENST00000686212.1:n.862T>C
ENST00000687215.1:c.*1015T>C	ENSP00000509706.1:n.*1015T>C
ENST00000688152.1:c.*704T>C	ENSP00000509360.1:n.*704T>C
ENST00000688403.1:c.516T>C	ENSP00000508944.1:p.Ser172=
ENST00000689314.1:c.1305T>C	ENSP00000510607.1:p.Ser435=
ENST00000689694.1:c.1260T>C	ENSP00000508718.1:p.Ser420=
ENST00000689810.1:c.*909T>C	ENSP00000510635.1:n.*909T>C
ENST00000690282.1:c.516T>C	ENSP00000509809.1:p.Ser172=
ENST00000690351.1:c.*912T>C	ENSP00000509728.1:n.*912T>C
ENST00000691232.1:c.915T>C	ENSP00000509675.1:p.Ser305=
ENST00000691482.1:n.2275T>C
ENST00000691686.1:c.1260T>C	ENSP00000509784.1:p.Ser420=
ENST00000691851.1:c.1053+8126T>C	ENSP00000510106.1:n.1053+8126T>C
ENST00000692015.1:c.1047T>C	ENSP00000510634.1:p.Ser349=
ENST00000692638.1:c.*1065T>C	ENSP00000509412.1:n.*1065T>C
ENST00000692852.1:c.1071T>C	ENSP00000510337.1:p.Ser357=
ENST00000692915.1:c.*1406T>C	ENSP00000508547.1:n.*1406T>C
ENST00000370396.7:c.1260T>C MANE Select	ENSP00000359423.3:p.Ser420=
ENST00000306167.11:n.1127T>C
ENST00000370396.6:c.1260T>C	ENSP00000359423.2:p.Ser420=
NM_000252.2:c.1260T>C , LRG_839t1:c.1260T>C	NP_000243.1:p.Ser420=
XM_005274687.2:c.1260T>C	XP_005274744.1:p.Ser420=
XM_011531170.1:c.1326T>C	XP_011529472.1:p.Ser442=
XM_011531171.1:c.1305T>C	XP_011529473.1:p.Ser435=
XM_011531172.1:c.1305T>C	XP_011529474.1:p.Ser435=
XM_011531173.1:c.1260T>C	XP_011529475.1:p.Ser420=
XM_011531173.2:c.1260T>C	XP_011529475.1:p.Ser420=
XM_017029547.1:c.1305T>C	XP_016885036.1:p.Ser435=
XM_017029548.1:c.1305T>C	XP_016885037.1:p.Ser435=
XM_017029549.1:c.1260T>C	XP_016885038.1:p.Ser420=
XM_017029550.1:c.1149T>C	XP_016885039.1:p.Ser383=
XM_017029551.2:c.516T>C	XP_016885040.1:p.Ser172=
NM_000252.3:c.1260T>C MANE Select	NP_000243.1:p.Ser420=
NM_001376906.1:c.1260T>C	NP_001363835.1:p.Ser420=
NM_001376907.1:c.1149T>C	NP_001363836.1:p.Ser383=
NM_001376908.1:c.1260T>C	NP_001363837.1:p.Ser420=