Canonical Allele Identifier: CA423811520

Gene: MTR

Linked Data

• gnomAD v4: 1-236852622-T-C
• MyVariant Identifiers: chr1:g.237015922T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852622T>C , CM000663.2:g.236852622T>C	GRCh38
NC_000001.10:g.237015922T>C , CM000663.1:g.237015922T>C	GRCh37
NC_000001.9:g.235082545T>C	NCBI36
NG_008959.1:g.62342T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1797T>C MANE Select	ENSP00000355536.5:p.Leu599=
ENST00000535889.6:c.1797T>C	ENSP00000441845.1:p.Leu599=
ENST00000650888.1:c.*839T>C	ENSP00000498393.1:n.*839T>C
ENST00000651455.1:c.*541T>C	ENSP00000498963.1:n.*541T>C
ENST00000674797.2:c.1449T>C	ENSP00000502299.2:p.Leu483=
ENST00000679569.1:n.2111T>C
ENST00000679842.1:c.1797T>C	ENSP00000506109.1:p.Leu599=
ENST00000680454.1:n.2241T>C
ENST00000681102.1:c.1617T>C	ENSP00000505600.1:p.Leu539=
ENST00000681177.1:c.1516-7211T>C	ENSP00000506327.1:n.1516-7211T>C
ENST00000681937.1:n.2148-7211T>C
ENST00000366576.3:c.459T>C	ENSP00000355535.3:p.Leu153=
ENST00000366577.9:c.1797T>C	ENSP00000355536.5:p.Leu599=
ENST00000463959.1:n.1816T>C
ENST00000535889.5:c.1797T>C	ENSP00000441845.1:p.Leu599=
NM_000254.2:c.1797T>C	NP_000245.2:p.Leu599=
NM_001291939.1:c.1797T>C	NP_001278868.1:p.Leu599=
NM_001291940.1:c.576T>C	NP_001278869.1:p.Leu192=
XM_005273141.3:c.1794T>C	XP_005273198.1:p.Leu598=
XM_006711769.2:c.1797T>C	XP_006711832.1:p.Leu599=
XM_006711770.1:c.861T>C	XP_006711833.1:p.Leu287=
XM_011544193.1:c.1797T>C	XP_011542495.1:p.Leu599=
XM_011544194.1:c.1965T>C	XP_011542496.1:p.Leu655=
XM_005273141.5:c.1794T>C	XP_005273198.1:p.Leu598=
XM_006711770.3:c.861T>C	XP_006711833.1:p.Leu287=
XM_011544194.3:c.1965T>C	XP_011542496.1:p.Leu655=
XM_017001329.2:c.1965T>C	XP_016856818.1:p.Leu655=
XM_017001330.2:c.1965T>C	XP_016856819.1:p.Leu655=
NM_001291940.2:c.576T>C	NP_001278869.1:p.Leu192=
NM_000254.3:c.1797T>C MANE Select	NP_000245.2:p.Leu599=