Canonical Allele Identifier: CA1473970

Gene: MTR

Linked Data

• dbSNP Id: rs751996717
• ExAC: 1:236992528 T / C
• gnomAD v2: 1-236992528-T-C
• gnomAD v4: 1-236829228-T-C
• MyVariant Identifiers: chr1:g.236992528T>C (hg19) ; chr1:g.236829228T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829228T>C , CM000663.2:g.236829228T>C	GRCh38
NC_000001.10:g.236992528T>C , CM000663.1:g.236992528T>C	GRCh37
NC_000001.9:g.235059151T>C	NCBI36
NG_008959.1:g.38948T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1035T>C MANE Select	ENSP00000355536.5:p.Val345=
ENST00000535889.6:c.1035T>C	ENSP00000441845.1:p.Val345=
ENST00000650888.1:c.*77T>C	ENSP00000498393.1:n.*77T>C
ENST00000651455.1:c.1035T>C	ENSP00000498963.1:p.Val345=
ENST00000674797.2:c.687T>C	ENSP00000502299.2:p.Val229=
ENST00000679569.1:n.1349T>C
ENST00000679842.1:c.1035T>C	ENSP00000506109.1:p.Val345=
ENST00000680454.1:n.1479T>C
ENST00000681102.1:c.1035T>C	ENSP00000505600.1:p.Val345=
ENST00000681177.1:c.1035T>C	ENSP00000506327.1:p.Val345=
ENST00000681937.1:n.1667T>C
ENST00000366577.9:c.1035T>C	ENSP00000355536.5:p.Val345=
ENST00000463959.1:n.1054T>C
ENST00000535889.5:c.1035T>C	ENSP00000441845.1:p.Val345=
NM_000254.2:c.1035T>C	NP_000245.2:p.Val345=
NM_001291939.1:c.1035T>C	NP_001278868.1:p.Val345=
NM_001291940.1:c.-74T>C	NP_001278869.1:n.-74T>C
XM_005273141.3:c.1032T>C	XP_005273198.1:p.Val344=
XM_006711769.2:c.1035T>C	XP_006711832.1:p.Val345=
XM_006711770.1:c.99T>C	XP_006711833.1:p.Val33=
XM_011544193.1:c.1035T>C	XP_011542495.1:p.Val345=
XM_011544194.1:c.1203T>C	XP_011542496.1:p.Val401=
XM_005273141.5:c.1032T>C	XP_005273198.1:p.Val344=
XM_006711770.3:c.99T>C	XP_006711833.1:p.Val33=
XM_011544194.3:c.1203T>C	XP_011542496.1:p.Val401=
XM_017001329.2:c.1203T>C	XP_016856818.1:p.Val401=
XM_017001330.2:c.1203T>C	XP_016856819.1:p.Val401=
NM_001291940.2:c.-74T>C	NP_001278869.1:n.-74T>C
NM_000254.3:c.1035T>C MANE Select	NP_000245.2:p.Val345=