Canonical Allele Identifier: CA2487090348
Gene: MTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852577C= , CM000663.2:g.236852577C= GRCh38
NC_000001.10:g.237015877C= , CM000663.1:g.237015877C= GRCh37
NC_000001.9:g.235082500C= NCBI36
NG_008959.1:g.62297C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1752C= MANE Select ENSP00000355536.5:p.Phe584=
ENST00000535889.6:c.1752C= ENSP00000441845.1:p.Phe584=
ENST00000650888.1:c.*794C= ENSP00000498393.1:n.*794C=
ENST00000651455.1:c.*496C= ENSP00000498963.1:n.*496C=
ENST00000674797.2:c.1404C= ENSP00000502299.2:p.Phe468=
ENST00000679569.1:n.2066C=
ENST00000679842.1:c.1752C= ENSP00000506109.1:p.Phe584=
ENST00000680454.1:n.2196C=
ENST00000681102.1:c.1572C= ENSP00000505600.1:p.Phe524=
ENST00000681177.1:c.1516-7256C= ENSP00000506327.1:n.1516-7256C=
ENST00000681937.1:n.2148-7256C=
ENST00000366576.3:c.414C= ENSP00000355535.3:p.Phe138=
ENST00000366577.9:c.1752C= ENSP00000355536.5:p.Phe584=
ENST00000463959.1:n.1771C=
ENST00000535889.5:c.1752C= ENSP00000441845.1:p.Phe584=
NM_000254.2:c.1752C= NP_000245.2:p.Phe584=
NM_001291939.1:c.1752C= NP_001278868.1:p.Phe584=
NM_001291940.1:c.531C= NP_001278869.1:p.Phe177=
XM_005273141.3:c.1749C= XP_005273198.1:p.Phe583=
XM_006711769.2:c.1752C= XP_006711832.1:p.Phe584=
XM_006711770.1:c.816C= XP_006711833.1:p.Phe272=
XM_011544193.1:c.1752C= XP_011542495.1:p.Phe584=
XM_011544194.1:c.1920C= XP_011542496.1:p.Phe640=
XM_005273141.5:c.1749C= XP_005273198.1:p.Phe583=
XM_006711770.3:c.816C= XP_006711833.1:p.Phe272=
XM_011544194.3:c.1920C= XP_011542496.1:p.Phe640=
XM_017001329.2:c.1920C= XP_016856818.1:p.Phe640=
XM_017001330.2:c.1920C= XP_016856819.1:p.Phe640=
NM_001291940.2:c.531C= NP_001278869.1:p.Phe177=
NM_000254.3:c.1752C= MANE Select NP_000245.2:p.Phe584=