Canonical Allele Identifier: CA359156870

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878155T>G (hg19) ; chr5:g.7878042T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878042T>G , CM000667.2:g.7878042T>G	GRCh38
NC_000005.9:g.7878155T>G , CM000667.1:g.7878155T>G	GRCh37
NC_000005.8:g.7931155T>G	NCBI36
NG_008856.1:g.13939T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.500T>G MANE Select	ENSP00000402510.2:p.Leu167Arg
ENST00000264668.6:c.581T>G	ENSP00000264668.2:p.Leu194Arg
ENST00000440940.6:c.500T>G	ENSP00000402510.2:p.Leu167Arg
ENST00000508890.1:n.313T>G
ENST00000510279.5:c.*169T>G	ENSP00000427200.1:n.*169T>G
ENST00000510525.5:c.525T>G
ENST00000511461.5:c.413T>G
ENST00000513439.5:c.*207T>G	ENSP00000426710.1:n.*207T>G
ENST00000514220.5:c.285T>G
ENST00000514369.5:c.*164T>G	ENSP00000426132.1:n.*164T>G
NM_002454.2:c.500T>G	NP_002445.2:p.Leu167Arg
NM_024010.2:c.581T>G	NP_076915.2:p.Leu194Arg
XM_006714474.2:c.581T>G	XP_006714537.1:p.Leu194Arg
XM_011514043.1:c.581T>G	XP_011512345.1:p.Leu194Arg
XM_011514044.1:c.500T>G	XP_011512346.1:p.Leu167Arg
XM_011514045.1:c.581T>G	XP_011512347.1:p.Leu194Arg
XR_241702.1:n.603T>G
XR_241703.1:n.596T>G
XR_925614.1:n.603T>G
XR_925615.1:n.603T>G
NM_001364440.1:c.500T>G	NP_001351369.1:p.Leu167Arg
NM_001364441.1:c.500T>G	NP_001351370.1:p.Leu167Arg
NM_001364442.1:c.500T>G	NP_001351371.1:p.Leu167Arg
NM_024010.3:c.500T>G	NP_076915.3:p.Leu167Arg
NR_134480.1:n.623T>G
NR_134481.1:n.637T>G
NR_134482.1:n.483T>G
NR_157168.1:n.553T>G
NR_157169.1:n.413T>G
NR_157170.1:n.439T>G
NR_157171.1:n.413T>G
NR_157172.1:n.439T>G
NR_157173.1:n.567T>G
NR_157174.1:n.439T>G
NR_157175.1:n.593T>G
NR_157176.1:n.593T>G
NR_157177.1:n.588T>G
NR_157178.1:n.593T>G
XM_024446063.1:c.545T>G	XP_024301831.1:p.Leu182Arg
XM_024446064.1:c.500T>G	XP_024301832.1:p.Leu167Arg
XR_001742071.1:n.603T>G
XR_001742072.1:n.603T>G
XR_001742074.1:n.603T>G
XR_001742075.1:n.603T>G
XR_001742076.1:n.603T>G
XR_001742077.1:n.603T>G
NM_001364440.2:c.500T>G	NP_001351369.1:p.Leu167Arg
NM_001364441.2:c.500T>G	NP_001351370.1:p.Leu167Arg
NM_001364442.2:c.500T>G	NP_001351371.1:p.Leu167Arg
NM_002454.3:c.500T>G MANE Select	NP_002445.2:p.Leu167Arg
NM_024010.4:c.500T>G	NP_076915.3:p.Leu167Arg
NR_134480.2:n.579T>G
NR_134481.2:n.593T>G
NR_134482.2:n.439T>G
NR_157168.2:n.553T>G
NR_157169.2:n.413T>G
NR_157170.2:n.439T>G
NR_157171.2:n.413T>G
NR_157172.2:n.439T>G
NR_157173.2:n.567T>G
NR_157174.2:n.439T>G
NR_157175.2:n.593T>G
NR_157176.2:n.593T>G
NR_157177.2:n.588T>G
NR_157178.2:n.593T>G