Canonical Allele Identifier: CA345374748

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237015864T>G (hg19) ; chr1:g.236852564T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852564T>G , CM000663.2:g.236852564T>G	GRCh38
NC_000001.10:g.237015864T>G , CM000663.1:g.237015864T>G	GRCh37
NC_000001.9:g.235082487T>G	NCBI36
NG_008959.1:g.62284T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1739T>G MANE Select	ENSP00000355536.5:p.Leu580Trp
ENST00000535889.6:c.1739T>G	ENSP00000441845.1:p.Leu580Trp
ENST00000650888.1:c.*781T>G	ENSP00000498393.1:n.*781T>G
ENST00000651455.1:c.*483T>G	ENSP00000498963.1:n.*483T>G
ENST00000674797.2:c.1391T>G	ENSP00000502299.2:p.Leu464Trp
ENST00000679569.1:n.2053T>G
ENST00000679842.1:c.1739T>G	ENSP00000506109.1:p.Leu580Trp
ENST00000680454.1:n.2183T>G
ENST00000681102.1:c.1559T>G	ENSP00000505600.1:p.Leu520Trp
ENST00000681177.1:c.1516-7269T>G	ENSP00000506327.1:n.1516-7269T>G
ENST00000681937.1:n.2148-7269T>G
ENST00000366576.3:c.401T>G	ENSP00000355535.3:p.Leu134Trp
ENST00000366577.9:c.1739T>G	ENSP00000355536.5:p.Leu580Trp
ENST00000463959.1:n.1758T>G
ENST00000535889.5:c.1739T>G	ENSP00000441845.1:p.Leu580Trp
NM_000254.2:c.1739T>G	NP_000245.2:p.Leu580Trp
NM_001291939.1:c.1739T>G	NP_001278868.1:p.Leu580Trp
NM_001291940.1:c.518T>G	NP_001278869.1:p.Leu173Trp
XM_005273141.3:c.1736T>G	XP_005273198.1:p.Leu579Trp
XM_006711769.2:c.1739T>G	XP_006711832.1:p.Leu580Trp
XM_006711770.1:c.803T>G	XP_006711833.1:p.Leu268Trp
XM_011544193.1:c.1739T>G	XP_011542495.1:p.Leu580Trp
XM_011544194.1:c.1907T>G	XP_011542496.1:p.Leu636Trp
XM_005273141.5:c.1736T>G	XP_005273198.1:p.Leu579Trp
XM_006711770.3:c.803T>G	XP_006711833.1:p.Leu268Trp
XM_011544194.3:c.1907T>G	XP_011542496.1:p.Leu636Trp
XM_017001329.2:c.1907T>G	XP_016856818.1:p.Leu636Trp
XM_017001330.2:c.1907T>G	XP_016856819.1:p.Leu636Trp
NM_001291940.2:c.518T>G	NP_001278869.1:p.Leu173Trp
NM_000254.3:c.1739T>G MANE Select	NP_000245.2:p.Leu580Trp