Canonical Allele Identifier: CA345374629

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015837C>T (hg19) ; chr1:g.236852537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852537C>T , CM000663.2:g.236852537C>T	GRCh38
NC_000001.10:g.237015837C>T , CM000663.1:g.237015837C>T	GRCh37
NC_000001.9:g.235082460C>T	NCBI36
NG_008959.1:g.62257C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1712C>T MANE Select	ENSP00000355536.5:p.Ala571Val
ENST00000535889.6:c.1712C>T	ENSP00000441845.1:p.Ala571Val
ENST00000650888.1:c.*754C>T	ENSP00000498393.1:n.*754C>T
ENST00000651455.1:c.*456C>T	ENSP00000498963.1:n.*456C>T
ENST00000674797.2:c.1364C>T	ENSP00000502299.2:p.Ala455Val
ENST00000679569.1:n.2026C>T
ENST00000679842.1:c.1712C>T	ENSP00000506109.1:p.Ala571Val
ENST00000680454.1:n.2156C>T
ENST00000681102.1:c.1532C>T	ENSP00000505600.1:p.Ala511Val
ENST00000681177.1:c.1516-7296C>T	ENSP00000506327.1:n.1516-7296C>T
ENST00000681937.1:n.2148-7296C>T
ENST00000366576.3:c.374C>T	ENSP00000355535.3:p.Ala125Val
ENST00000366577.9:c.1712C>T	ENSP00000355536.5:p.Ala571Val
ENST00000463959.1:n.1731C>T
ENST00000535889.5:c.1712C>T	ENSP00000441845.1:p.Ala571Val
NM_000254.2:c.1712C>T	NP_000245.2:p.Ala571Val
NM_001291939.1:c.1712C>T	NP_001278868.1:p.Ala571Val
NM_001291940.1:c.491C>T	NP_001278869.1:p.Ala164Val
XM_005273141.3:c.1709C>T	XP_005273198.1:p.Ala570Val
XM_006711769.2:c.1712C>T	XP_006711832.1:p.Ala571Val
XM_006711770.1:c.776C>T	XP_006711833.1:p.Ala259Val
XM_011544193.1:c.1712C>T	XP_011542495.1:p.Ala571Val
XM_011544194.1:c.1880C>T	XP_011542496.1:p.Ala627Val
XM_005273141.5:c.1709C>T	XP_005273198.1:p.Ala570Val
XM_006711770.3:c.776C>T	XP_006711833.1:p.Ala259Val
XM_011544194.3:c.1880C>T	XP_011542496.1:p.Ala627Val
XM_017001329.2:c.1880C>T	XP_016856818.1:p.Ala627Val
XM_017001330.2:c.1880C>T	XP_016856819.1:p.Ala627Val
NM_001291940.2:c.491C>T	NP_001278869.1:p.Ala164Val
NM_000254.3:c.1712C>T MANE Select	NP_000245.2:p.Ala571Val