Canonical Allele Identifier: CA345374879

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015899G>A (hg19) ; chr1:g.236852599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852599G>A , CM000663.2:g.236852599G>A	GRCh38
NC_000001.10:g.237015899G>A , CM000663.1:g.237015899G>A	GRCh37
NC_000001.9:g.235082522G>A	NCBI36
NG_008959.1:g.62319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1774G>A MANE Select	ENSP00000355536.5:p.Glu592Lys
ENST00000535889.6:c.1774G>A	ENSP00000441845.1:p.Glu592Lys
ENST00000650888.1:c.*816G>A	ENSP00000498393.1:n.*816G>A
ENST00000651455.1:c.*518G>A	ENSP00000498963.1:n.*518G>A
ENST00000674797.2:c.1426G>A	ENSP00000502299.2:p.Glu476Lys
ENST00000679569.1:n.2088G>A
ENST00000679842.1:c.1774G>A	ENSP00000506109.1:p.Glu592Lys
ENST00000680454.1:n.2218G>A
ENST00000681102.1:c.1594G>A	ENSP00000505600.1:p.Glu532Lys
ENST00000681177.1:c.1516-7234G>A	ENSP00000506327.1:n.1516-7234G>A
ENST00000681937.1:n.2148-7234G>A
ENST00000366576.3:c.436G>A	ENSP00000355535.3:p.Glu146Lys
ENST00000366577.9:c.1774G>A	ENSP00000355536.5:p.Glu592Lys
ENST00000463959.1:n.1793G>A
ENST00000535889.5:c.1774G>A	ENSP00000441845.1:p.Glu592Lys
NM_000254.2:c.1774G>A	NP_000245.2:p.Glu592Lys
NM_001291939.1:c.1774G>A	NP_001278868.1:p.Glu592Lys
NM_001291940.1:c.553G>A	NP_001278869.1:p.Glu185Lys
XM_005273141.3:c.1771G>A	XP_005273198.1:p.Glu591Lys
XM_006711769.2:c.1774G>A	XP_006711832.1:p.Glu592Lys
XM_006711770.1:c.838G>A	XP_006711833.1:p.Glu280Lys
XM_011544193.1:c.1774G>A	XP_011542495.1:p.Glu592Lys
XM_011544194.1:c.1942G>A	XP_011542496.1:p.Glu648Lys
XM_005273141.5:c.1771G>A	XP_005273198.1:p.Glu591Lys
XM_006711770.3:c.838G>A	XP_006711833.1:p.Glu280Lys
XM_011544194.3:c.1942G>A	XP_011542496.1:p.Glu648Lys
XM_017001329.2:c.1942G>A	XP_016856818.1:p.Glu648Lys
XM_017001330.2:c.1942G>A	XP_016856819.1:p.Glu648Lys
NM_001291940.2:c.553G>A	NP_001278869.1:p.Glu185Lys
NM_000254.3:c.1774G>A MANE Select	NP_000245.2:p.Glu592Lys