Canonical Allele Identifier: CA345374949

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015924A>T (hg19) ; chr1:g.236852624A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852624A>T , CM000663.2:g.236852624A>T	GRCh38
NC_000001.10:g.237015924A>T , CM000663.1:g.237015924A>T	GRCh37
NC_000001.9:g.235082547A>T	NCBI36
NG_008959.1:g.62344A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1799A>T MANE Select	ENSP00000355536.5:p.Tyr600Phe
ENST00000535889.6:c.1799A>T	ENSP00000441845.1:p.Tyr600Phe
ENST00000650888.1:c.*841A>T	ENSP00000498393.1:n.*841A>T
ENST00000651455.1:c.*543A>T	ENSP00000498963.1:n.*543A>T
ENST00000674797.2:c.1451A>T	ENSP00000502299.2:p.Tyr484Phe
ENST00000679569.1:n.2113A>T
ENST00000679842.1:c.1799A>T	ENSP00000506109.1:p.Tyr600Phe
ENST00000680454.1:n.2243A>T
ENST00000681102.1:c.1619A>T	ENSP00000505600.1:p.Tyr540Phe
ENST00000681177.1:c.1516-7209A>T	ENSP00000506327.1:n.1516-7209A>T
ENST00000681937.1:n.2148-7209A>T
ENST00000366576.3:c.461A>T	ENSP00000355535.3:p.Tyr154Phe
ENST00000366577.9:c.1799A>T	ENSP00000355536.5:p.Tyr600Phe
ENST00000463959.1:n.1818A>T
ENST00000535889.5:c.1799A>T	ENSP00000441845.1:p.Tyr600Phe
NM_000254.2:c.1799A>T	NP_000245.2:p.Tyr600Phe
NM_001291939.1:c.1799A>T	NP_001278868.1:p.Tyr600Phe
NM_001291940.1:c.578A>T	NP_001278869.1:p.Tyr193Phe
XM_005273141.3:c.1796A>T	XP_005273198.1:p.Tyr599Phe
XM_006711769.2:c.1799A>T	XP_006711832.1:p.Tyr600Phe
XM_006711770.1:c.863A>T	XP_006711833.1:p.Tyr288Phe
XM_011544193.1:c.1799A>T	XP_011542495.1:p.Tyr600Phe
XM_011544194.1:c.1967A>T	XP_011542496.1:p.Tyr656Phe
XM_005273141.5:c.1796A>T	XP_005273198.1:p.Tyr599Phe
XM_006711770.3:c.863A>T	XP_006711833.1:p.Tyr288Phe
XM_011544194.3:c.1967A>T	XP_011542496.1:p.Tyr656Phe
XM_017001329.2:c.1967A>T	XP_016856818.1:p.Tyr656Phe
XM_017001330.2:c.1967A>T	XP_016856819.1:p.Tyr656Phe
NM_001291940.2:c.578A>T	NP_001278869.1:p.Tyr193Phe
NM_000254.3:c.1799A>T MANE Select	NP_000245.2:p.Tyr600Phe