Canonical Allele Identifier: CA345374825

Gene: MTR

Linked Data

• ClinVar Variation Id: 1706180
• ClinVar RCV Id: RCV002284710
• dbSNP Id: rs1663973571
• gnomAD v4: 1-236852585-T-C
• MyVariant Identifiers: chr1:g.237015885T>C (hg19) ; chr1:g.236852585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852585T>C , CM000663.2:g.236852585T>C	GRCh38
NC_000001.10:g.237015885T>C , CM000663.1:g.237015885T>C	GRCh37
NC_000001.9:g.235082508T>C	NCBI36
NG_008959.1:g.62305T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.1760T>C MANE Select	ENSP00000355536.5:p.Met587Thr
ENST00000535889.6:c.1760T>C	ENSP00000441845.1:p.Met587Thr
ENST00000650888.1:c.*802T>C	ENSP00000498393.1:n.*802T>C
ENST00000651455.1:c.*504T>C	ENSP00000498963.1:n.*504T>C
ENST00000674797.2:c.1412T>C	ENSP00000502299.2:p.Met471Thr
ENST00000679569.1:n.2074T>C
ENST00000679842.1:c.1760T>C	ENSP00000506109.1:p.Met587Thr
ENST00000680454.1:n.2204T>C
ENST00000681102.1:c.1580T>C	ENSP00000505600.1:p.Met527Thr
ENST00000681177.1:c.1516-7248T>C	ENSP00000506327.1:n.1516-7248T>C
ENST00000681937.1:n.2148-7248T>C
ENST00000366576.3:c.422T>C	ENSP00000355535.3:p.Met141Thr
ENST00000366577.9:c.1760T>C	ENSP00000355536.5:p.Met587Thr
ENST00000463959.1:n.1779T>C
ENST00000535889.5:c.1760T>C	ENSP00000441845.1:p.Met587Thr
NM_000254.2:c.1760T>C	NP_000245.2:p.Met587Thr
NM_001291939.1:c.1760T>C	NP_001278868.1:p.Met587Thr
NM_001291940.1:c.539T>C	NP_001278869.1:p.Met180Thr
XM_005273141.3:c.1757T>C	XP_005273198.1:p.Met586Thr
XM_006711769.2:c.1760T>C	XP_006711832.1:p.Met587Thr
XM_006711770.1:c.824T>C	XP_006711833.1:p.Met275Thr
XM_011544193.1:c.1760T>C	XP_011542495.1:p.Met587Thr
XM_011544194.1:c.1928T>C	XP_011542496.1:p.Met643Thr
XM_005273141.5:c.1757T>C	XP_005273198.1:p.Met586Thr
XM_006711770.3:c.824T>C	XP_006711833.1:p.Met275Thr
XM_011544194.3:c.1928T>C	XP_011542496.1:p.Met643Thr
XM_017001329.2:c.1928T>C	XP_016856818.1:p.Met643Thr
XM_017001330.2:c.1928T>C	XP_016856819.1:p.Met643Thr
NM_001291940.2:c.539T>C	NP_001278869.1:p.Met180Thr
NM_000254.3:c.1760T>C MANE Select	NP_000245.2:p.Met587Thr