Canonical Allele Identifier: CA345384385

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048435A>C (hg19) ; chr1:g.236885135A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885135A>C , CM000663.2:g.236885135A>C	GRCh38
NC_000001.10:g.237048435A>C , CM000663.1:g.237048435A>C	GRCh37
NC_000001.9:g.235115058A>C	NCBI36
NG_008959.1:g.94855A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.2691A>C MANE Select	ENSP00000355536.5:p.Leu897Phe
ENST00000535889.6:c.2538A>C	ENSP00000441845.1:p.Leu846Phe
ENST00000650888.1:c.*1733A>C	ENSP00000498393.1:n.*1733A>C
ENST00000651455.1:c.*1435A>C	ENSP00000498963.1:n.*1435A>C
ENST00000674797.2:c.2343A>C	ENSP00000502299.2:p.Leu781Phe
ENST00000679569.1:n.3005A>C
ENST00000679842.1:c.2502A>C	ENSP00000506109.1:p.Leu834Phe
ENST00000680454.1:n.3135A>C
ENST00000681102.1:c.2511A>C	ENSP00000505600.1:p.Leu837Phe
ENST00000681177.1:c.2253A>C	ENSP00000506327.1:p.Leu751Phe
ENST00000681937.1:n.2885A>C
ENST00000366576.3:c.1353A>C	ENSP00000355535.3:p.Leu451Phe
ENST00000366577.9:c.2691A>C	ENSP00000355536.5:p.Leu897Phe
ENST00000535889.5:c.2538A>C	ENSP00000441845.1:p.Leu846Phe
NM_000254.2:c.2691A>C	NP_000245.2:p.Leu897Phe
NM_001291939.1:c.2538A>C	NP_001278868.1:p.Leu846Phe
NM_001291940.1:c.1470A>C	NP_001278869.1:p.Leu490Phe
XM_005273141.3:c.2688A>C	XP_005273198.1:p.Leu896Phe
XM_006711769.2:c.2691A>C	XP_006711832.1:p.Leu897Phe
XM_006711770.1:c.1755A>C	XP_006711833.1:p.Leu585Phe
XM_011544193.1:c.2502A>C	XP_011542495.1:p.Leu834Phe
XM_011544194.1:c.2859A>C	XP_011542496.1:p.Leu953Phe
XM_005273141.5:c.2688A>C	XP_005273198.1:p.Leu896Phe
XM_006711770.3:c.1755A>C	XP_006711833.1:p.Leu585Phe
XM_011544194.3:c.2859A>C	XP_011542496.1:p.Leu953Phe
XM_017001329.2:c.2706A>C	XP_016856818.1:p.Leu902Phe
XM_017001330.2:c.2670A>C	XP_016856819.1:p.Leu890Phe
NM_001291940.2:c.1470A>C	NP_001278869.1:p.Leu490Phe
NM_000254.3:c.2691A>C MANE Select	NP_000245.2:p.Leu897Phe