Canonical Allele Identifier: CA423811473

Gene: MTR

Linked Data

• gnomAD v4: 1-236852563-T-C
• COSMIC: COSM4703662
• MyVariant Identifiers: chr1:g.237015863T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852563T>C , CM000663.2:g.236852563T>C	GRCh38
NC_000001.10:g.237015863T>C , CM000663.1:g.237015863T>C	GRCh37
NC_000001.9:g.235082486T>C	NCBI36
NG_008959.1:g.62283T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1738T>C MANE Select	ENSP00000355536.5:p.Leu580=
ENST00000535889.6:c.1738T>C	ENSP00000441845.1:p.Leu580=
ENST00000650888.1:c.*780T>C	ENSP00000498393.1:n.*780T>C
ENST00000651455.1:c.*482T>C	ENSP00000498963.1:n.*482T>C
ENST00000674797.2:c.1390T>C	ENSP00000502299.2:p.Leu464=
ENST00000679569.1:n.2052T>C
ENST00000679842.1:c.1738T>C	ENSP00000506109.1:p.Leu580=
ENST00000680454.1:n.2182T>C
ENST00000681102.1:c.1558T>C	ENSP00000505600.1:p.Leu520=
ENST00000681177.1:c.1516-7270T>C	ENSP00000506327.1:n.1516-7270T>C
ENST00000681937.1:n.2148-7270T>C
ENST00000366576.3:c.400T>C	ENSP00000355535.3:p.Leu134=
ENST00000366577.9:c.1738T>C	ENSP00000355536.5:p.Leu580=
ENST00000463959.1:n.1757T>C
ENST00000535889.5:c.1738T>C	ENSP00000441845.1:p.Leu580=
NM_000254.2:c.1738T>C	NP_000245.2:p.Leu580=
NM_001291939.1:c.1738T>C	NP_001278868.1:p.Leu580=
NM_001291940.1:c.517T>C	NP_001278869.1:p.Leu173=
XM_005273141.3:c.1735T>C	XP_005273198.1:p.Leu579=
XM_006711769.2:c.1738T>C	XP_006711832.1:p.Leu580=
XM_006711770.1:c.802T>C	XP_006711833.1:p.Leu268=
XM_011544193.1:c.1738T>C	XP_011542495.1:p.Leu580=
XM_011544194.1:c.1906T>C	XP_011542496.1:p.Leu636=
XM_005273141.5:c.1735T>C	XP_005273198.1:p.Leu579=
XM_006711770.3:c.802T>C	XP_006711833.1:p.Leu268=
XM_011544194.3:c.1906T>C	XP_011542496.1:p.Leu636=
XM_017001329.2:c.1906T>C	XP_016856818.1:p.Leu636=
XM_017001330.2:c.1906T>C	XP_016856819.1:p.Leu636=
NM_001291940.2:c.517T>C	NP_001278869.1:p.Leu173=
NM_000254.3:c.1738T>C MANE Select	NP_000245.2:p.Leu580=