Canonical Allele Identifier: CA3195617
Gene: MTRR HGNC NCBI

Linked Data

dbSNP Id: rs769406733
gnomAD v2: 5-7878154-C-T
gnomAD v4: 5-7878041-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7878041C>T , CM000667.2:g.7878041C>T GRCh38
NC_000005.9:g.7878154C>T , CM000667.1:g.7878154C>T GRCh37
NC_000005.8:g.7931154C>T NCBI36
NG_008856.1:g.13938C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000440940.7:c.499C>T MANE Select ENSP00000402510.2:p.Leu167Phe
ENST00000264668.6:c.580C>T ENSP00000264668.2:p.Leu194Phe
ENST00000440940.6:c.499C>T ENSP00000402510.2:p.Leu167Phe
ENST00000508890.1:n.312C>T
ENST00000510279.5:c.*168C>T ENSP00000427200.1:n.*168C>T
ENST00000510525.5:c.524C>T
ENST00000511461.5:c.412C>T
ENST00000513439.5:c.*206C>T ENSP00000426710.1:n.*206C>T
ENST00000514220.5:c.284C>T
ENST00000514369.5:c.*163C>T ENSP00000426132.1:n.*163C>T
NM_002454.2:c.499C>T NP_002445.2:p.Leu167Phe
NM_024010.2:c.580C>T NP_076915.2:p.Leu194Phe
XM_006714474.2:c.580C>T XP_006714537.1:p.Leu194Phe
XM_011514043.1:c.580C>T XP_011512345.1:p.Leu194Phe
XM_011514044.1:c.499C>T XP_011512346.1:p.Leu167Phe
XM_011514045.1:c.580C>T XP_011512347.1:p.Leu194Phe
XR_241702.1:n.602C>T
XR_241703.1:n.595C>T
XR_925614.1:n.602C>T
XR_925615.1:n.602C>T
NM_001364440.1:c.499C>T NP_001351369.1:p.Leu167Phe
NM_001364441.1:c.499C>T NP_001351370.1:p.Leu167Phe
NM_001364442.1:c.499C>T NP_001351371.1:p.Leu167Phe
NM_024010.3:c.499C>T NP_076915.3:p.Leu167Phe
NR_134480.1:n.622C>T
NR_134481.1:n.636C>T
NR_134482.1:n.482C>T
NR_157168.1:n.552C>T
NR_157169.1:n.412C>T
NR_157170.1:n.438C>T
NR_157171.1:n.412C>T
NR_157172.1:n.438C>T
NR_157173.1:n.566C>T
NR_157174.1:n.438C>T
NR_157175.1:n.592C>T
NR_157176.1:n.592C>T
NR_157177.1:n.587C>T
NR_157178.1:n.592C>T
XM_024446063.1:c.544C>T XP_024301831.1:p.Leu182Phe
XM_024446064.1:c.499C>T XP_024301832.1:p.Leu167Phe
XR_001742071.1:n.602C>T
XR_001742072.1:n.602C>T
XR_001742074.1:n.602C>T
XR_001742075.1:n.602C>T
XR_001742076.1:n.602C>T
XR_001742077.1:n.602C>T
NM_001364440.2:c.499C>T NP_001351369.1:p.Leu167Phe
NM_001364441.2:c.499C>T NP_001351370.1:p.Leu167Phe
NM_001364442.2:c.499C>T NP_001351371.1:p.Leu167Phe
NM_002454.3:c.499C>T MANE Select NP_002445.2:p.Leu167Phe
NM_024010.4:c.499C>T NP_076915.3:p.Leu167Phe
NR_134480.2:n.578C>T
NR_134481.2:n.592C>T
NR_134482.2:n.438C>T
NR_157168.2:n.552C>T
NR_157169.2:n.412C>T
NR_157170.2:n.438C>T
NR_157171.2:n.412C>T
NR_157172.2:n.438C>T
NR_157173.2:n.566C>T
NR_157174.2:n.438C>T
NR_157175.2:n.592C>T
NR_157176.2:n.592C>T
NR_157177.2:n.587C>T
NR_157178.2:n.592C>T