Canonical Allele Identifier: CA345374978

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015936A>C (hg19) ; chr1:g.236852636A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852636A>C , CM000663.2:g.236852636A>C	GRCh38
NC_000001.10:g.237015936A>C , CM000663.1:g.237015936A>C	GRCh37
NC_000001.9:g.235082559A>C	NCBI36
NG_008959.1:g.62356A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1811A>C MANE Select	ENSP00000355536.5:p.Lys604Thr
ENST00000535889.6:c.1811A>C	ENSP00000441845.1:p.Lys604Thr
ENST00000650888.1:c.*853A>C	ENSP00000498393.1:n.*853A>C
ENST00000651455.1:c.*555A>C	ENSP00000498963.1:n.*555A>C
ENST00000674797.2:c.1463A>C	ENSP00000502299.2:p.Lys488Thr
ENST00000679569.1:n.2125A>C
ENST00000679842.1:c.1811A>C	ENSP00000506109.1:p.Lys604Thr
ENST00000680454.1:n.2255A>C
ENST00000681102.1:c.1631A>C	ENSP00000505600.1:p.Lys544Thr
ENST00000681177.1:c.1516-7197A>C	ENSP00000506327.1:n.1516-7197A>C
ENST00000681937.1:n.2148-7197A>C
ENST00000366576.3:c.473A>C	ENSP00000355535.3:p.Lys158Thr
ENST00000366577.9:c.1811A>C	ENSP00000355536.5:p.Lys604Thr
ENST00000463959.1:n.1830A>C
ENST00000535889.5:c.1811A>C	ENSP00000441845.1:p.Lys604Thr
NM_000254.2:c.1811A>C	NP_000245.2:p.Lys604Thr
NM_001291939.1:c.1811A>C	NP_001278868.1:p.Lys604Thr
NM_001291940.1:c.590A>C	NP_001278869.1:p.Lys197Thr
XM_005273141.3:c.1808A>C	XP_005273198.1:p.Lys603Thr
XM_006711769.2:c.1811A>C	XP_006711832.1:p.Lys604Thr
XM_006711770.1:c.875A>C	XP_006711833.1:p.Lys292Thr
XM_011544193.1:c.1811A>C	XP_011542495.1:p.Lys604Thr
XM_011544194.1:c.1979A>C	XP_011542496.1:p.Lys660Thr
XM_005273141.5:c.1808A>C	XP_005273198.1:p.Lys603Thr
XM_006711770.3:c.875A>C	XP_006711833.1:p.Lys292Thr
XM_011544194.3:c.1979A>C	XP_011542496.1:p.Lys660Thr
XM_017001329.2:c.1979A>C	XP_016856818.1:p.Lys660Thr
XM_017001330.2:c.1979A>C	XP_016856819.1:p.Lys660Thr
NM_001291940.2:c.590A>C	NP_001278869.1:p.Lys197Thr
NM_000254.3:c.1811A>C MANE Select	NP_000245.2:p.Lys604Thr