Canonical Allele Identifier: CA345383326

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237044134G>C (hg19) ; chr1:g.236880834G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880834G>C , CM000663.2:g.236880834G>C	GRCh38
NC_000001.10:g.237044134G>C , CM000663.1:g.237044134G>C	GRCh37
NC_000001.9:g.235110757G>C	NCBI36
NG_008959.1:g.90554G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2674G>C MANE Select	ENSP00000355536.5:p.Val892Leu
ENST00000535889.6:c.2521G>C	ENSP00000441845.1:p.Val841Leu
ENST00000650888.1:c.*1716G>C	ENSP00000498393.1:n.*1716G>C
ENST00000651455.1:c.*1418G>C	ENSP00000498963.1:n.*1418G>C
ENST00000674797.2:c.2326G>C	ENSP00000502299.2:p.Val776Leu
ENST00000679569.1:n.2988G>C
ENST00000679842.1:c.2485G>C	ENSP00000506109.1:p.Val829Leu
ENST00000680454.1:n.3118G>C
ENST00000681102.1:c.2494G>C	ENSP00000505600.1:p.Val832Leu
ENST00000681177.1:c.2236G>C	ENSP00000506327.1:p.Val746Leu
ENST00000681937.1:n.2868G>C
ENST00000366576.3:c.1336G>C	ENSP00000355535.3:p.Val446Leu
ENST00000366577.9:c.2674G>C	ENSP00000355536.5:p.Val892Leu
ENST00000535889.5:c.2521G>C	ENSP00000441845.1:p.Val841Leu
NM_000254.2:c.2674G>C	NP_000245.2:p.Val892Leu
NM_001291939.1:c.2521G>C	NP_001278868.1:p.Val841Leu
NM_001291940.1:c.1453G>C	NP_001278869.1:p.Val485Leu
XM_005273141.3:c.2671G>C	XP_005273198.1:p.Val891Leu
XM_006711769.2:c.2674G>C	XP_006711832.1:p.Val892Leu
XM_006711770.1:c.1738G>C	XP_006711833.1:p.Val580Leu
XM_011544193.1:c.2485G>C	XP_011542495.1:p.Val829Leu
XM_011544194.1:c.2842G>C	XP_011542496.1:p.Val948Leu
XM_005273141.5:c.2671G>C	XP_005273198.1:p.Val891Leu
XM_006711770.3:c.1738G>C	XP_006711833.1:p.Val580Leu
XM_011544194.3:c.2842G>C	XP_011542496.1:p.Val948Leu
XM_017001329.2:c.2689G>C	XP_016856818.1:p.Val897Leu
XM_017001330.2:c.2653G>C	XP_016856819.1:p.Val885Leu
NM_001291940.2:c.1453G>C	NP_001278869.1:p.Val485Leu
NM_000254.3:c.2674G>C MANE Select	NP_000245.2:p.Val892Leu