Canonical Allele Identifier: CA423811769

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237016277T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852977T>C , CM000663.2:g.236852977T>C	GRCh38
NC_000001.10:g.237016277T>C , CM000663.1:g.237016277T>C	GRCh37
NC_000001.9:g.235082900T>C	NCBI36
NG_008959.1:g.62697T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1842T>C MANE Select	ENSP00000355536.5:p.Ala614=
ENST00000535889.6:c.1842T>C	ENSP00000441845.1:p.Ala614=
ENST00000650888.1:c.*884T>C	ENSP00000498393.1:n.*884T>C
ENST00000651455.1:c.*586T>C	ENSP00000498963.1:n.*586T>C
ENST00000674797.2:c.1494T>C	ENSP00000502299.2:p.Ala498=
ENST00000679569.1:n.2156T>C
ENST00000679842.1:c.1842T>C	ENSP00000506109.1:p.Ala614=
ENST00000680454.1:n.2286T>C
ENST00000681102.1:c.1662T>C	ENSP00000505600.1:p.Ala554=
ENST00000681177.1:c.1516-6856T>C	ENSP00000506327.1:n.1516-6856T>C
ENST00000681937.1:n.2148-6856T>C
ENST00000366576.3:c.504T>C	ENSP00000355535.3:p.Ala168=
ENST00000366577.9:c.1842T>C	ENSP00000355536.5:p.Ala614=
ENST00000463959.1:n.1861T>C
ENST00000535889.5:c.1842T>C	ENSP00000441845.1:p.Ala614=
NM_000254.2:c.1842T>C	NP_000245.2:p.Ala614=
NM_001291939.1:c.1842T>C	NP_001278868.1:p.Ala614=
NM_001291940.1:c.621T>C	NP_001278869.1:p.Ala207=
XM_005273141.3:c.1839T>C	XP_005273198.1:p.Ala613=
XM_006711769.2:c.1842T>C	XP_006711832.1:p.Ala614=
XM_006711770.1:c.906T>C	XP_006711833.1:p.Ala302=
XM_011544193.1:c.1842T>C	XP_011542495.1:p.Ala614=
XM_011544194.1:c.2010T>C	XP_011542496.1:p.Ala670=
XM_005273141.5:c.1839T>C	XP_005273198.1:p.Ala613=
XM_006711770.3:c.906T>C	XP_006711833.1:p.Ala302=
XM_011544194.3:c.2010T>C	XP_011542496.1:p.Ala670=
XM_017001329.2:c.2010T>C	XP_016856818.1:p.Ala670=
XM_017001330.2:c.2010T>C	XP_016856819.1:p.Ala670=
NM_001291940.2:c.621T>C	NP_001278869.1:p.Ala207=
NM_000254.3:c.1842T>C MANE Select	NP_000245.2:p.Ala614=