Canonical Allele Identifier: CA345374897

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015903C>T (hg19) ; chr1:g.236852603C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852603C>T , CM000663.2:g.236852603C>T	GRCh38
NC_000001.10:g.237015903C>T , CM000663.1:g.237015903C>T	GRCh37
NC_000001.9:g.235082526C>T	NCBI36
NG_008959.1:g.62323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1778C>T MANE Select	ENSP00000355536.5:p.Ala593Val
ENST00000535889.6:c.1778C>T	ENSP00000441845.1:p.Ala593Val
ENST00000650888.1:c.*820C>T	ENSP00000498393.1:n.*820C>T
ENST00000651455.1:c.*522C>T	ENSP00000498963.1:n.*522C>T
ENST00000674797.2:c.1430C>T	ENSP00000502299.2:p.Ala477Val
ENST00000679569.1:n.2092C>T
ENST00000679842.1:c.1778C>T	ENSP00000506109.1:p.Ala593Val
ENST00000680454.1:n.2222C>T
ENST00000681102.1:c.1598C>T	ENSP00000505600.1:p.Ala533Val
ENST00000681177.1:c.1516-7230C>T	ENSP00000506327.1:n.1516-7230C>T
ENST00000681937.1:n.2148-7230C>T
ENST00000366576.3:c.440C>T	ENSP00000355535.3:p.Ala147Val
ENST00000366577.9:c.1778C>T	ENSP00000355536.5:p.Ala593Val
ENST00000463959.1:n.1797C>T
ENST00000535889.5:c.1778C>T	ENSP00000441845.1:p.Ala593Val
NM_000254.2:c.1778C>T	NP_000245.2:p.Ala593Val
NM_001291939.1:c.1778C>T	NP_001278868.1:p.Ala593Val
NM_001291940.1:c.557C>T	NP_001278869.1:p.Ala186Val
XM_005273141.3:c.1775C>T	XP_005273198.1:p.Ala592Val
XM_006711769.2:c.1778C>T	XP_006711832.1:p.Ala593Val
XM_006711770.1:c.842C>T	XP_006711833.1:p.Ala281Val
XM_011544193.1:c.1778C>T	XP_011542495.1:p.Ala593Val
XM_011544194.1:c.1946C>T	XP_011542496.1:p.Ala649Val
XM_005273141.5:c.1775C>T	XP_005273198.1:p.Ala592Val
XM_006711770.3:c.842C>T	XP_006711833.1:p.Ala281Val
XM_011544194.3:c.1946C>T	XP_011542496.1:p.Ala649Val
XM_017001329.2:c.1946C>T	XP_016856818.1:p.Ala649Val
XM_017001330.2:c.1946C>T	XP_016856819.1:p.Ala649Val
NM_001291940.2:c.557C>T	NP_001278869.1:p.Ala186Val
NM_000254.3:c.1778C>T MANE Select	NP_000245.2:p.Ala593Val