Canonical Allele Identifier: CA423811505

Gene: MTR

Linked Data

• gnomAD v4: 1-236852610-T-C
• MyVariant Identifiers: chr1:g.237015910T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852610T>C , CM000663.2:g.236852610T>C	GRCh38
NC_000001.10:g.237015910T>C , CM000663.1:g.237015910T>C	GRCh37
NC_000001.9:g.235082533T>C	NCBI36
NG_008959.1:g.62330T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1785T>C MANE Select	ENSP00000355536.5:p.His595=
ENST00000535889.6:c.1785T>C	ENSP00000441845.1:p.His595=
ENST00000650888.1:c.*827T>C	ENSP00000498393.1:n.*827T>C
ENST00000651455.1:c.*529T>C	ENSP00000498963.1:n.*529T>C
ENST00000674797.2:c.1437T>C	ENSP00000502299.2:p.His479=
ENST00000679569.1:n.2099T>C
ENST00000679842.1:c.1785T>C	ENSP00000506109.1:p.His595=
ENST00000680454.1:n.2229T>C
ENST00000681102.1:c.1605T>C	ENSP00000505600.1:p.His535=
ENST00000681177.1:c.1516-7223T>C	ENSP00000506327.1:n.1516-7223T>C
ENST00000681937.1:n.2148-7223T>C
ENST00000366576.3:c.447T>C	ENSP00000355535.3:p.His149=
ENST00000366577.9:c.1785T>C	ENSP00000355536.5:p.His595=
ENST00000463959.1:n.1804T>C
ENST00000535889.5:c.1785T>C	ENSP00000441845.1:p.His595=
NM_000254.2:c.1785T>C	NP_000245.2:p.His595=
NM_001291939.1:c.1785T>C	NP_001278868.1:p.His595=
NM_001291940.1:c.564T>C	NP_001278869.1:p.His188=
XM_005273141.3:c.1782T>C	XP_005273198.1:p.His594=
XM_006711769.2:c.1785T>C	XP_006711832.1:p.His595=
XM_006711770.1:c.849T>C	XP_006711833.1:p.His283=
XM_011544193.1:c.1785T>C	XP_011542495.1:p.His595=
XM_011544194.1:c.1953T>C	XP_011542496.1:p.His651=
XM_005273141.5:c.1782T>C	XP_005273198.1:p.His594=
XM_006711770.3:c.849T>C	XP_006711833.1:p.His283=
XM_011544194.3:c.1953T>C	XP_011542496.1:p.His651=
XM_017001329.2:c.1953T>C	XP_016856818.1:p.His651=
XM_017001330.2:c.1953T>C	XP_016856819.1:p.His651=
NM_001291940.2:c.564T>C	NP_001278869.1:p.His188=
NM_000254.3:c.1785T>C MANE Select	NP_000245.2:p.His595=