Canonical Allele Identifier: CA345384615

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048500A>C (hg19) ; chr1:g.236885200A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885200A>C , CM000663.2:g.236885200A>C	GRCh38
NC_000001.10:g.237048500A>C , CM000663.1:g.237048500A>C	GRCh37
NC_000001.9:g.235115123A>C	NCBI36
NG_008959.1:g.94920A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2756A>C MANE Select	ENSP00000355536.5:p.Asp919Ala
ENST00000535889.6:c.2603A>C	ENSP00000441845.1:p.Asp868Ala
ENST00000650888.1:c.*1798A>C	ENSP00000498393.1:n.*1798A>C
ENST00000651455.1:c.*1500A>C	ENSP00000498963.1:n.*1500A>C
ENST00000674797.2:c.2408A>C	ENSP00000502299.2:p.Asp803Ala
ENST00000679569.1:n.3070A>C
ENST00000679842.1:c.2567A>C	ENSP00000506109.1:p.Asp856Ala
ENST00000680454.1:n.3200A>C
ENST00000681102.1:c.2576A>C	ENSP00000505600.1:p.Asp859Ala
ENST00000681177.1:c.2318A>C	ENSP00000506327.1:p.Asp773Ala
ENST00000681937.1:n.2950A>C
ENST00000366576.3:c.1418A>C	ENSP00000355535.3:p.Asp473Ala
ENST00000366577.9:c.2756A>C	ENSP00000355536.5:p.Asp919Ala
ENST00000535889.5:c.2603A>C	ENSP00000441845.1:p.Asp868Ala
NM_000254.2:c.2756A>C	NP_000245.2:p.Asp919Ala
NM_001291939.1:c.2603A>C	NP_001278868.1:p.Asp868Ala
NM_001291940.1:c.1535A>C	NP_001278869.1:p.Asp512Ala
XM_005273141.3:c.2753A>C	XP_005273198.1:p.Asp918Ala
XM_006711769.2:c.2756A>C	XP_006711832.1:p.Asp919Ala
XM_006711770.1:c.1820A>C	XP_006711833.1:p.Asp607Ala
XM_011544193.1:c.2567A>C	XP_011542495.1:p.Asp856Ala
XM_011544194.1:c.2924A>C	XP_011542496.1:p.Asp975Ala
XM_005273141.5:c.2753A>C	XP_005273198.1:p.Asp918Ala
XM_006711770.3:c.1820A>C	XP_006711833.1:p.Asp607Ala
XM_011544194.3:c.2924A>C	XP_011542496.1:p.Asp975Ala
XM_017001329.2:c.2771A>C	XP_016856818.1:p.Asp924Ala
XM_017001330.2:c.2735A>C	XP_016856819.1:p.Asp912Ala
NM_001291940.2:c.1535A>C	NP_001278869.1:p.Asp512Ala
NM_000254.3:c.2756A>C MANE Select	NP_000245.2:p.Asp919Ala