Canonical Allele Identifier: CA423811448
Gene: MTR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.237015832T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236852532T>G , CM000663.2:g.236852532T>G GRCh38
NC_000001.10:g.237015832T>G , CM000663.1:g.237015832T>G GRCh37
NC_000001.9:g.235082455T>G NCBI36
NG_008959.1:g.62252T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.1707T>G MANE Select ENSP00000355536.5:p.Pro569=
ENST00000535889.6:c.1707T>G ENSP00000441845.1:p.Pro569=
ENST00000650888.1:c.*749T>G ENSP00000498393.1:n.*749T>G
ENST00000651455.1:c.*451T>G ENSP00000498963.1:n.*451T>G
ENST00000674797.2:c.1359T>G ENSP00000502299.2:p.Pro453=
ENST00000679569.1:n.2021T>G
ENST00000679842.1:c.1707T>G ENSP00000506109.1:p.Pro569=
ENST00000680454.1:n.2151T>G
ENST00000681102.1:c.1527T>G ENSP00000505600.1:p.Pro509=
ENST00000681177.1:c.1516-7301T>G ENSP00000506327.1:n.1516-7301T>G
ENST00000681937.1:n.2148-7301T>G
ENST00000366576.3:c.369T>G ENSP00000355535.3:p.Pro123=
ENST00000366577.9:c.1707T>G ENSP00000355536.5:p.Pro569=
ENST00000463959.1:n.1726T>G
ENST00000535889.5:c.1707T>G ENSP00000441845.1:p.Pro569=
NM_000254.2:c.1707T>G NP_000245.2:p.Pro569=
NM_001291939.1:c.1707T>G NP_001278868.1:p.Pro569=
NM_001291940.1:c.486T>G NP_001278869.1:p.Pro162=
XM_005273141.3:c.1704T>G XP_005273198.1:p.Pro568=
XM_006711769.2:c.1707T>G XP_006711832.1:p.Pro569=
XM_006711770.1:c.771T>G XP_006711833.1:p.Pro257=
XM_011544193.1:c.1707T>G XP_011542495.1:p.Pro569=
XM_011544194.1:c.1875T>G XP_011542496.1:p.Pro625=
XM_005273141.5:c.1704T>G XP_005273198.1:p.Pro568=
XM_006711770.3:c.771T>G XP_006711833.1:p.Pro257=
XM_011544194.3:c.1875T>G XP_011542496.1:p.Pro625=
XM_017001329.2:c.1875T>G XP_016856818.1:p.Pro625=
XM_017001330.2:c.1875T>G XP_016856819.1:p.Pro625=
NM_001291940.2:c.486T>G NP_001278869.1:p.Pro162=
NM_000254.3:c.1707T>G MANE Select NP_000245.2:p.Pro569=