Canonical Allele Identifier: CA345383282

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237044129T>C (hg19) ; chr1:g.236880829T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880829T>C , CM000663.2:g.236880829T>C	GRCh38
NC_000001.10:g.237044129T>C , CM000663.1:g.237044129T>C	GRCh37
NC_000001.9:g.235110752T>C	NCBI36
NG_008959.1:g.90549T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2669T>C MANE Select	ENSP00000355536.5:p.Val890Ala
ENST00000535889.6:c.2516T>C	ENSP00000441845.1:p.Val839Ala
ENST00000650888.1:c.*1711T>C	ENSP00000498393.1:n.*1711T>C
ENST00000651455.1:c.*1413T>C	ENSP00000498963.1:n.*1413T>C
ENST00000674797.2:c.2321T>C	ENSP00000502299.2:p.Val774Ala
ENST00000679569.1:n.2983T>C
ENST00000679842.1:c.2480T>C	ENSP00000506109.1:p.Val827Ala
ENST00000680454.1:n.3113T>C
ENST00000681102.1:c.2489T>C	ENSP00000505600.1:p.Val830Ala
ENST00000681177.1:c.2231T>C	ENSP00000506327.1:p.Val744Ala
ENST00000681937.1:n.2863T>C
ENST00000366576.3:c.1331T>C	ENSP00000355535.3:p.Val444Ala
ENST00000366577.9:c.2669T>C	ENSP00000355536.5:p.Val890Ala
ENST00000535889.5:c.2516T>C	ENSP00000441845.1:p.Val839Ala
NM_000254.2:c.2669T>C	NP_000245.2:p.Val890Ala
NM_001291939.1:c.2516T>C	NP_001278868.1:p.Val839Ala
NM_001291940.1:c.1448T>C	NP_001278869.1:p.Val483Ala
XM_005273141.3:c.2666T>C	XP_005273198.1:p.Val889Ala
XM_006711769.2:c.2669T>C	XP_006711832.1:p.Val890Ala
XM_006711770.1:c.1733T>C	XP_006711833.1:p.Val578Ala
XM_011544193.1:c.2480T>C	XP_011542495.1:p.Val827Ala
XM_011544194.1:c.2837T>C	XP_011542496.1:p.Val946Ala
XM_005273141.5:c.2666T>C	XP_005273198.1:p.Val889Ala
XM_006711770.3:c.1733T>C	XP_006711833.1:p.Val578Ala
XM_011544194.3:c.2837T>C	XP_011542496.1:p.Val946Ala
XM_017001329.2:c.2684T>C	XP_016856818.1:p.Val895Ala
XM_017001330.2:c.2648T>C	XP_016856819.1:p.Val883Ala
NM_001291940.2:c.1448T>C	NP_001278869.1:p.Val483Ala
NM_000254.3:c.2669T>C MANE Select	NP_000245.2:p.Val890Ala