Canonical Allele Identifier: CA1474161

Gene: MTR

Linked Data

• ClinVar Variation Id: 681424
• ClinVar RCV Id: RCV001392820 ; RCV000841315
• dbSNP Id: rs758784869
• ExAC: 1:237015868 C / T
• gnomAD v2: 1-237015868-C-T
• gnomAD v3: 1-236852568-C-T
• gnomAD v4: 1-236852568-C-T
• MyVariant Identifiers: chr1:g.237015868C>T (hg19) ; chr1:g.236852568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852568C>T , CM000663.2:g.236852568C>T	GRCh38
NC_000001.10:g.237015868C>T , CM000663.1:g.237015868C>T	GRCh37
NC_000001.9:g.235082491C>T	NCBI36
NG_008959.1:g.62288C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1743C>T MANE Select	ENSP00000355536.5:p.Ser581=
ENST00000535889.6:c.1743C>T	ENSP00000441845.1:p.Ser581=
ENST00000650888.1:c.*785C>T	ENSP00000498393.1:n.*785C>T
ENST00000651455.1:c.*487C>T	ENSP00000498963.1:n.*487C>T
ENST00000674797.2:c.1395C>T	ENSP00000502299.2:p.Ser465=
ENST00000679569.1:n.2057C>T
ENST00000679842.1:c.1743C>T	ENSP00000506109.1:p.Ser581=
ENST00000680454.1:n.2187C>T
ENST00000681102.1:c.1563C>T	ENSP00000505600.1:p.Ser521=
ENST00000681177.1:c.1516-7265C>T	ENSP00000506327.1:n.1516-7265C>T
ENST00000681937.1:n.2148-7265C>T
ENST00000366576.3:c.405C>T	ENSP00000355535.3:p.Ser135=
ENST00000366577.9:c.1743C>T	ENSP00000355536.5:p.Ser581=
ENST00000463959.1:n.1762C>T
ENST00000535889.5:c.1743C>T	ENSP00000441845.1:p.Ser581=
NM_000254.2:c.1743C>T	NP_000245.2:p.Ser581=
NM_001291939.1:c.1743C>T	NP_001278868.1:p.Ser581=
NM_001291940.1:c.522C>T	NP_001278869.1:p.Ser174=
XM_005273141.3:c.1740C>T	XP_005273198.1:p.Ser580=
XM_006711769.2:c.1743C>T	XP_006711832.1:p.Ser581=
XM_006711770.1:c.807C>T	XP_006711833.1:p.Ser269=
XM_011544193.1:c.1743C>T	XP_011542495.1:p.Ser581=
XM_011544194.1:c.1911C>T	XP_011542496.1:p.Ser637=
XM_005273141.5:c.1740C>T	XP_005273198.1:p.Ser580=
XM_006711770.3:c.807C>T	XP_006711833.1:p.Ser269=
XM_011544194.3:c.1911C>T	XP_011542496.1:p.Ser637=
XM_017001329.2:c.1911C>T	XP_016856818.1:p.Ser637=
XM_017001330.2:c.1911C>T	XP_016856819.1:p.Ser637=
NM_001291940.2:c.522C>T	NP_001278869.1:p.Ser174=
NM_000254.3:c.1743C>T MANE Select	NP_000245.2:p.Ser581=