Canonical Allele Identifier: CA39749142
Gene: MTR HGNC NCBI

Linked Data

dbSNP Id: rs770461702
MyVariant Identifiers: chr1:g.236829175C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236829175C>G , CM000663.2:g.236829175C>G GRCh38
NC_000001.10:g.236992475C>G , CM000663.1:g.236992475C>G GRCh37
NC_000001.9:g.235059098C>G NCBI36
NG_008959.1:g.38895C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366577.10:c.996-14C>G MANE Select ENSP00000355536.5:n.996-14C>G
ENST00000535889.6:c.996-14C>G ENSP00000441845.1:n.996-14C>G
ENST00000650888.1:c.*38-14C>G ENSP00000498393.1:n.*38-14C>G
ENST00000651455.1:c.996-14C>G ENSP00000498963.1:n.996-14C>G
ENST00000674797.2:c.648-14C>G ENSP00000502299.2:n.648-14C>G
ENST00000679569.1:n.1310-14C>G
ENST00000679842.1:c.996-14C>G ENSP00000506109.1:n.996-14C>G
ENST00000680454.1:n.1440-14C>G
ENST00000681102.1:c.996-14C>G ENSP00000505600.1:n.996-14C>G
ENST00000681177.1:c.996-14C>G ENSP00000506327.1:n.996-14C>G
ENST00000681937.1:n.1628-14C>G
ENST00000366577.9:c.996-14C>G ENSP00000355536.5:n.996-14C>G
ENST00000463959.1:n.1015-14C>G
ENST00000535889.5:c.996-14C>G ENSP00000441845.1:n.996-14C>G
NM_000254.2:c.996-14C>G NP_000245.2:n.996-14C>G
NM_001291939.1:c.996-14C>G NP_001278868.1:n.996-14C>G
NM_001291940.1:c.-113-14C>G NP_001278869.1:n.-113-14C>G
XM_005273141.3:c.993-14C>G XP_005273198.1:n.993-14C>G
XM_006711769.2:c.996-14C>G XP_006711832.1:n.996-14C>G
XM_006711770.1:c.60-14C>G XP_006711833.1:n.60-14C>G
XM_011544193.1:c.996-14C>G XP_011542495.1:n.996-14C>G
XM_011544194.1:c.1164-14C>G XP_011542496.1:n.1164-14C>G
XM_005273141.5:c.993-14C>G XP_005273198.1:n.993-14C>G
XM_006711770.3:c.60-14C>G XP_006711833.1:n.60-14C>G
XM_011544194.3:c.1164-14C>G XP_011542496.1:n.1164-14C>G
XM_017001329.2:c.1164-14C>G XP_016856818.1:n.1164-14C>G
XM_017001330.2:c.1164-14C>G XP_016856819.1:n.1164-14C>G
NM_001291940.2:c.-113-14C>G NP_001278869.1:n.-113-14C>G
NM_000254.3:c.996-14C>G MANE Select NP_000245.2:n.996-14C>G