Canonical Allele Identifier: CA2580062370

Gene: MTR

Linked Data

• ClinVar Variation Id: 2116668
• ClinVar RCV Id: RCV003024834
• gnomAD v4: 1-236852649-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852649G>T , CM000663.2:g.236852649G>T	GRCh38
NC_000001.10:g.237015949G>T , CM000663.1:g.237015949G>T	GRCh37
NC_000001.9:g.235082572G>T	NCBI36
NG_008959.1:g.62369G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1812+12G>T MANE Select	ENSP00000355536.5:n.1812+12G>T
ENST00000535889.6:c.1812+12G>T	ENSP00000441845.1:n.1812+12G>T
ENST00000650888.1:c.*854+12G>T	ENSP00000498393.1:n.*854+12G>T
ENST00000651455.1:c.*556+12G>T	ENSP00000498963.1:n.*556+12G>T
ENST00000674797.2:c.1464+12G>T	ENSP00000502299.2:n.1464+12G>T
ENST00000679569.1:n.2126+12G>T
ENST00000679842.1:c.1812+12G>T	ENSP00000506109.1:n.1812+12G>T
ENST00000680454.1:n.2256+12G>T
ENST00000681102.1:c.1632+12G>T	ENSP00000505600.1:n.1632+12G>T
ENST00000681177.1:c.1516-7184G>T	ENSP00000506327.1:n.1516-7184G>T
ENST00000681937.1:n.2148-7184G>T
ENST00000366576.3:c.474+12G>T	ENSP00000355535.3:n.474+12G>T
ENST00000366577.9:c.1812+12G>T	ENSP00000355536.5:n.1812+12G>T
ENST00000463959.1:n.1831+12G>T
ENST00000535889.5:c.1812+12G>T	ENSP00000441845.1:n.1812+12G>T
NM_000254.2:c.1812+12G>T	NP_000245.2:n.1812+12G>T
NM_001291939.1:c.1812+12G>T	NP_001278868.1:n.1812+12G>T
NM_001291940.1:c.591+12G>T	NP_001278869.1:n.591+12G>T
XM_005273141.3:c.1809+12G>T	XP_005273198.1:n.1809+12G>T
XM_006711769.2:c.1812+12G>T	XP_006711832.1:n.1812+12G>T
XM_006711770.1:c.876+12G>T	XP_006711833.1:n.876+12G>T
XM_011544193.1:c.1812+12G>T	XP_011542495.1:n.1812+12G>T
XM_011544194.1:c.1980+12G>T	XP_011542496.1:n.1980+12G>T
XM_005273141.5:c.1809+12G>T	XP_005273198.1:n.1809+12G>T
XM_006711770.3:c.876+12G>T	XP_006711833.1:n.876+12G>T
XM_011544194.3:c.1980+12G>T	XP_011542496.1:n.1980+12G>T
XM_017001329.2:c.1980+12G>T	XP_016856818.1:n.1980+12G>T
XM_017001330.2:c.1980+12G>T	XP_016856819.1:n.1980+12G>T
NM_001291940.2:c.591+12G>T	NP_001278869.1:n.591+12G>T
NM_000254.3:c.1812+12G>T MANE Select	NP_000245.2:n.1812+12G>T