Canonical Allele Identifier: CA345374874

Gene: MTR

Linked Data

• gnomAD v4: 1-236852597-G-A
• COSMIC: COSM282922
• MyVariant Identifiers: chr1:g.237015897G>A (hg19) ; chr1:g.236852597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852597G>A , CM000663.2:g.236852597G>A	GRCh38
NC_000001.10:g.237015897G>A , CM000663.1:g.237015897G>A	GRCh37
NC_000001.9:g.235082520G>A	NCBI36
NG_008959.1:g.62317G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1772G>A MANE Select	ENSP00000355536.5:p.Arg591Gln
ENST00000535889.6:c.1772G>A	ENSP00000441845.1:p.Arg591Gln
ENST00000650888.1:c.*814G>A	ENSP00000498393.1:n.*814G>A
ENST00000651455.1:c.*516G>A	ENSP00000498963.1:n.*516G>A
ENST00000674797.2:c.1424G>A	ENSP00000502299.2:p.Arg475Gln
ENST00000679569.1:n.2086G>A
ENST00000679842.1:c.1772G>A	ENSP00000506109.1:p.Arg591Gln
ENST00000680454.1:n.2216G>A
ENST00000681102.1:c.1592G>A	ENSP00000505600.1:p.Arg531Gln
ENST00000681177.1:c.1516-7236G>A	ENSP00000506327.1:n.1516-7236G>A
ENST00000681937.1:n.2148-7236G>A
ENST00000366576.3:c.434G>A	ENSP00000355535.3:p.Arg145Gln
ENST00000366577.9:c.1772G>A	ENSP00000355536.5:p.Arg591Gln
ENST00000463959.1:n.1791G>A
ENST00000535889.5:c.1772G>A	ENSP00000441845.1:p.Arg591Gln
NM_000254.2:c.1772G>A	NP_000245.2:p.Arg591Gln
NM_001291939.1:c.1772G>A	NP_001278868.1:p.Arg591Gln
NM_001291940.1:c.551G>A	NP_001278869.1:p.Arg184Gln
XM_005273141.3:c.1769G>A	XP_005273198.1:p.Arg590Gln
XM_006711769.2:c.1772G>A	XP_006711832.1:p.Arg591Gln
XM_006711770.1:c.836G>A	XP_006711833.1:p.Arg279Gln
XM_011544193.1:c.1772G>A	XP_011542495.1:p.Arg591Gln
XM_011544194.1:c.1940G>A	XP_011542496.1:p.Arg647Gln
XM_005273141.5:c.1769G>A	XP_005273198.1:p.Arg590Gln
XM_006711770.3:c.836G>A	XP_006711833.1:p.Arg279Gln
XM_011544194.3:c.1940G>A	XP_011542496.1:p.Arg647Gln
XM_017001329.2:c.1940G>A	XP_016856818.1:p.Arg647Gln
XM_017001330.2:c.1940G>A	XP_016856819.1:p.Arg647Gln
NM_001291940.2:c.551G>A	NP_001278869.1:p.Arg184Gln
NM_000254.3:c.1772G>A MANE Select	NP_000245.2:p.Arg591Gln