Canonical Allele Identifier: CA345384646

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048505T>C (hg19) ; chr1:g.236885205T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885205T>C , CM000663.2:g.236885205T>C	GRCh38
NC_000001.10:g.237048505T>C , CM000663.1:g.237048505T>C	GRCh37
NC_000001.9:g.235115128T>C	NCBI36
NG_008959.1:g.94925T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2761T>C MANE Select	ENSP00000355536.5:p.Tyr921His
ENST00000535889.6:c.2608T>C	ENSP00000441845.1:p.Tyr870His
ENST00000650888.1:c.*1803T>C	ENSP00000498393.1:n.*1803T>C
ENST00000651455.1:c.*1505T>C	ENSP00000498963.1:n.*1505T>C
ENST00000674797.2:c.2413T>C	ENSP00000502299.2:p.Tyr805His
ENST00000679569.1:n.3075T>C
ENST00000679842.1:c.2572T>C	ENSP00000506109.1:p.Tyr858His
ENST00000680454.1:n.3205T>C
ENST00000681102.1:c.2581T>C	ENSP00000505600.1:p.Tyr861His
ENST00000681177.1:c.2323T>C	ENSP00000506327.1:p.Tyr775His
ENST00000681937.1:n.2955T>C
ENST00000366576.3:c.1423T>C	ENSP00000355535.3:p.Tyr475His
ENST00000366577.9:c.2761T>C	ENSP00000355536.5:p.Tyr921His
ENST00000535889.5:c.2608T>C	ENSP00000441845.1:p.Tyr870His
NM_000254.2:c.2761T>C	NP_000245.2:p.Tyr921His
NM_001291939.1:c.2608T>C	NP_001278868.1:p.Tyr870His
NM_001291940.1:c.1540T>C	NP_001278869.1:p.Tyr514His
XM_005273141.3:c.2758T>C	XP_005273198.1:p.Tyr920His
XM_006711769.2:c.2761T>C	XP_006711832.1:p.Tyr921His
XM_006711770.1:c.1825T>C	XP_006711833.1:p.Tyr609His
XM_011544193.1:c.2572T>C	XP_011542495.1:p.Tyr858His
XM_011544194.1:c.2929T>C	XP_011542496.1:p.Tyr977His
XM_005273141.5:c.2758T>C	XP_005273198.1:p.Tyr920His
XM_006711770.3:c.1825T>C	XP_006711833.1:p.Tyr609His
XM_011544194.3:c.2929T>C	XP_011542496.1:p.Tyr977His
XM_017001329.2:c.2776T>C	XP_016856818.1:p.Tyr926His
XM_017001330.2:c.2740T>C	XP_016856819.1:p.Tyr914His
NM_001291940.2:c.1540T>C	NP_001278869.1:p.Tyr514His
NM_000254.3:c.2761T>C MANE Select	NP_000245.2:p.Tyr921His