Canonical Allele Identifier: CA423811455
Gene: MTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.237015838C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852538C>T , CM000663.2:g.236852538C>T GRCh38
NC_000001.10:g.237015838C>T , CM000663.1:g.237015838C>T GRCh37
NC_000001.9:g.235082461C>T NCBI36
NG_008959.1:g.62258C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1713C>T MANE Select ENSP00000355536.5:p.Ala571=
ENST00000535889.6:c.1713C>T ENSP00000441845.1:p.Ala571=
ENST00000650888.1:c.*755C>T ENSP00000498393.1:n.*755C>T
ENST00000651455.1:c.*457C>T ENSP00000498963.1:n.*457C>T
ENST00000674797.2:c.1365C>T ENSP00000502299.2:p.Ala455=
ENST00000679569.1:n.2027C>T
ENST00000679842.1:c.1713C>T ENSP00000506109.1:p.Ala571=
ENST00000680454.1:n.2157C>T
ENST00000681102.1:c.1533C>T ENSP00000505600.1:p.Ala511=
ENST00000681177.1:c.1516-7295C>T ENSP00000506327.1:n.1516-7295C>T
ENST00000681937.1:n.2148-7295C>T
ENST00000366576.3:c.375C>T ENSP00000355535.3:p.Ala125=
ENST00000366577.9:c.1713C>T ENSP00000355536.5:p.Ala571=
ENST00000463959.1:n.1732C>T
ENST00000535889.5:c.1713C>T ENSP00000441845.1:p.Ala571=
NM_000254.2:c.1713C>T NP_000245.2:p.Ala571=
NM_001291939.1:c.1713C>T NP_001278868.1:p.Ala571=
NM_001291940.1:c.492C>T NP_001278869.1:p.Ala164=
XM_005273141.3:c.1710C>T XP_005273198.1:p.Ala570=
XM_006711769.2:c.1713C>T XP_006711832.1:p.Ala571=
XM_006711770.1:c.777C>T XP_006711833.1:p.Ala259=
XM_011544193.1:c.1713C>T XP_011542495.1:p.Ala571=
XM_011544194.1:c.1881C>T XP_011542496.1:p.Ala627=
XM_005273141.5:c.1710C>T XP_005273198.1:p.Ala570=
XM_006711770.3:c.777C>T XP_006711833.1:p.Ala259=
XM_011544194.3:c.1881C>T XP_011542496.1:p.Ala627=
XM_017001329.2:c.1881C>T XP_016856818.1:p.Ala627=
XM_017001330.2:c.1881C>T XP_016856819.1:p.Ala627=
NM_001291940.2:c.492C>T NP_001278869.1:p.Ala164=
NM_000254.3:c.1713C>T MANE Select NP_000245.2:p.Ala571=