Canonical Allele Identifier: CA423811501
Gene: MTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.237015904A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852604A>T , CM000663.2:g.236852604A>T GRCh38
NC_000001.10:g.237015904A>T , CM000663.1:g.237015904A>T GRCh37
NC_000001.9:g.235082527A>T NCBI36
NG_008959.1:g.62324A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1779A>T MANE Select ENSP00000355536.5:p.Ala593=
ENST00000535889.6:c.1779A>T ENSP00000441845.1:p.Ala593=
ENST00000650888.1:c.*821A>T ENSP00000498393.1:n.*821A>T
ENST00000651455.1:c.*523A>T ENSP00000498963.1:n.*523A>T
ENST00000674797.2:c.1431A>T ENSP00000502299.2:p.Ala477=
ENST00000679569.1:n.2093A>T
ENST00000679842.1:c.1779A>T ENSP00000506109.1:p.Ala593=
ENST00000680454.1:n.2223A>T
ENST00000681102.1:c.1599A>T ENSP00000505600.1:p.Ala533=
ENST00000681177.1:c.1516-7229A>T ENSP00000506327.1:n.1516-7229A>T
ENST00000681937.1:n.2148-7229A>T
ENST00000366576.3:c.441A>T ENSP00000355535.3:p.Ala147=
ENST00000366577.9:c.1779A>T ENSP00000355536.5:p.Ala593=
ENST00000463959.1:n.1798A>T
ENST00000535889.5:c.1779A>T ENSP00000441845.1:p.Ala593=
NM_000254.2:c.1779A>T NP_000245.2:p.Ala593=
NM_001291939.1:c.1779A>T NP_001278868.1:p.Ala593=
NM_001291940.1:c.558A>T NP_001278869.1:p.Ala186=
XM_005273141.3:c.1776A>T XP_005273198.1:p.Ala592=
XM_006711769.2:c.1779A>T XP_006711832.1:p.Ala593=
XM_006711770.1:c.843A>T XP_006711833.1:p.Ala281=
XM_011544193.1:c.1779A>T XP_011542495.1:p.Ala593=
XM_011544194.1:c.1947A>T XP_011542496.1:p.Ala649=
XM_005273141.5:c.1776A>T XP_005273198.1:p.Ala592=
XM_006711770.3:c.843A>T XP_006711833.1:p.Ala281=
XM_011544194.3:c.1947A>T XP_011542496.1:p.Ala649=
XM_017001329.2:c.1947A>T XP_016856818.1:p.Ala649=
XM_017001330.2:c.1947A>T XP_016856819.1:p.Ala649=
NM_001291940.2:c.558A>T NP_001278869.1:p.Ala186=
NM_000254.3:c.1779A>T MANE Select NP_000245.2:p.Ala593=