Canonical Allele Identifier: CA345375060

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237016276C>G (hg19) ; chr1:g.236852976C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852976C>G , CM000663.2:g.236852976C>G	GRCh38
NC_000001.10:g.237016276C>G , CM000663.1:g.237016276C>G	GRCh37
NC_000001.9:g.235082899C>G	NCBI36
NG_008959.1:g.62696C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1841C>G MANE Select	ENSP00000355536.5:p.Ala614Gly
ENST00000535889.6:c.1841C>G	ENSP00000441845.1:p.Ala614Gly
ENST00000650888.1:c.*883C>G	ENSP00000498393.1:n.*883C>G
ENST00000651455.1:c.*585C>G	ENSP00000498963.1:n.*585C>G
ENST00000674797.2:c.1493C>G	ENSP00000502299.2:p.Ala498Gly
ENST00000679569.1:n.2155C>G
ENST00000679842.1:c.1841C>G	ENSP00000506109.1:p.Ala614Gly
ENST00000680454.1:n.2285C>G
ENST00000681102.1:c.1661C>G	ENSP00000505600.1:p.Ala554Gly
ENST00000681177.1:c.1516-6857C>G	ENSP00000506327.1:n.1516-6857C>G
ENST00000681937.1:n.2148-6857C>G
ENST00000366576.3:c.503C>G	ENSP00000355535.3:p.Ala168Gly
ENST00000366577.9:c.1841C>G	ENSP00000355536.5:p.Ala614Gly
ENST00000463959.1:n.1860C>G
ENST00000535889.5:c.1841C>G	ENSP00000441845.1:p.Ala614Gly
NM_000254.2:c.1841C>G	NP_000245.2:p.Ala614Gly
NM_001291939.1:c.1841C>G	NP_001278868.1:p.Ala614Gly
NM_001291940.1:c.620C>G	NP_001278869.1:p.Ala207Gly
XM_005273141.3:c.1838C>G	XP_005273198.1:p.Ala613Gly
XM_006711769.2:c.1841C>G	XP_006711832.1:p.Ala614Gly
XM_006711770.1:c.905C>G	XP_006711833.1:p.Ala302Gly
XM_011544193.1:c.1841C>G	XP_011542495.1:p.Ala614Gly
XM_011544194.1:c.2009C>G	XP_011542496.1:p.Ala670Gly
XM_005273141.5:c.1838C>G	XP_005273198.1:p.Ala613Gly
XM_006711770.3:c.905C>G	XP_006711833.1:p.Ala302Gly
XM_011544194.3:c.2009C>G	XP_011542496.1:p.Ala670Gly
XM_017001329.2:c.2009C>G	XP_016856818.1:p.Ala670Gly
XM_017001330.2:c.2009C>G	XP_016856819.1:p.Ala670Gly
NM_001291940.2:c.620C>G	NP_001278869.1:p.Ala207Gly
NM_000254.3:c.1841C>G MANE Select	NP_000245.2:p.Ala614Gly