Canonical Allele Identifier: CA1474195

Gene: MTR

Linked Data

• dbSNP Id: rs773476958
• ExAC: 1:237016277 T / A
• gnomAD v2: 1-237016277-T-A
• gnomAD v3: 1-236852977-T-A
• gnomAD v4: 1-236852977-T-A
• MyVariant Identifiers: chr1:g.237016277T>A (hg19) ; chr1:g.236852977T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852977T>A , CM000663.2:g.236852977T>A	GRCh38
NC_000001.10:g.237016277T>A , CM000663.1:g.237016277T>A	GRCh37
NC_000001.9:g.235082900T>A	NCBI36
NG_008959.1:g.62697T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1842T>A MANE Select	ENSP00000355536.5:p.Ala614=
ENST00000535889.6:c.1842T>A	ENSP00000441845.1:p.Ala614=
ENST00000650888.1:c.*884T>A	ENSP00000498393.1:n.*884T>A
ENST00000651455.1:c.*586T>A	ENSP00000498963.1:n.*586T>A
ENST00000674797.2:c.1494T>A	ENSP00000502299.2:p.Ala498=
ENST00000679569.1:n.2156T>A
ENST00000679842.1:c.1842T>A	ENSP00000506109.1:p.Ala614=
ENST00000680454.1:n.2286T>A
ENST00000681102.1:c.1662T>A	ENSP00000505600.1:p.Ala554=
ENST00000681177.1:c.1516-6856T>A	ENSP00000506327.1:n.1516-6856T>A
ENST00000681937.1:n.2148-6856T>A
ENST00000366576.3:c.504T>A	ENSP00000355535.3:p.Ala168=
ENST00000366577.9:c.1842T>A	ENSP00000355536.5:p.Ala614=
ENST00000463959.1:n.1861T>A
ENST00000535889.5:c.1842T>A	ENSP00000441845.1:p.Ala614=
NM_000254.2:c.1842T>A	NP_000245.2:p.Ala614=
NM_001291939.1:c.1842T>A	NP_001278868.1:p.Ala614=
NM_001291940.1:c.621T>A	NP_001278869.1:p.Ala207=
XM_005273141.3:c.1839T>A	XP_005273198.1:p.Ala613=
XM_006711769.2:c.1842T>A	XP_006711832.1:p.Ala614=
XM_006711770.1:c.906T>A	XP_006711833.1:p.Ala302=
XM_011544193.1:c.1842T>A	XP_011542495.1:p.Ala614=
XM_011544194.1:c.2010T>A	XP_011542496.1:p.Ala670=
XM_005273141.5:c.1839T>A	XP_005273198.1:p.Ala613=
XM_006711770.3:c.906T>A	XP_006711833.1:p.Ala302=
XM_011544194.3:c.2010T>A	XP_011542496.1:p.Ala670=
XM_017001329.2:c.2010T>A	XP_016856818.1:p.Ala670=
XM_017001330.2:c.2010T>A	XP_016856819.1:p.Ala670=
NM_001291940.2:c.621T>A	NP_001278869.1:p.Ala207=
NM_000254.3:c.1842T>A MANE Select	NP_000245.2:p.Ala614=