Canonical Allele Identifier: CA359156804

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878125G>C (hg19) ; chr5:g.7878012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878012G>C , CM000667.2:g.7878012G>C	GRCh38
NC_000005.9:g.7878125G>C , CM000667.1:g.7878125G>C	GRCh37
NC_000005.8:g.7931125G>C	NCBI36
NG_008856.1:g.13909G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.470G>C MANE Select	ENSP00000402510.2:p.Ser157Thr
ENST00000264668.6:c.551G>C	ENSP00000264668.2:p.Ser184Thr
ENST00000440940.6:c.470G>C	ENSP00000402510.2:p.Ser157Thr
ENST00000502509.5:n.685G>C
ENST00000502550.5:c.470G>C
ENST00000508047.5:c.523G>C
ENST00000508890.1:n.283G>C
ENST00000510279.5:c.*139G>C	ENSP00000427200.1:n.*139G>C
ENST00000510525.5:c.495G>C
ENST00000511461.5:c.383G>C
ENST00000513439.5:c.*177G>C	ENSP00000426710.1:n.*177G>C
ENST00000514220.5:c.255G>C
ENST00000514369.5:c.*134G>C	ENSP00000426132.1:n.*134G>C
NM_002454.2:c.470G>C	NP_002445.2:p.Ser157Thr
NM_024010.2:c.551G>C	NP_076915.2:p.Ser184Thr
XM_006714474.2:c.551G>C	XP_006714537.1:p.Ser184Thr
XM_011514043.1:c.551G>C	XP_011512345.1:p.Ser184Thr
XM_011514044.1:c.470G>C	XP_011512346.1:p.Ser157Thr
XM_011514045.1:c.551G>C	XP_011512347.1:p.Ser184Thr
XR_241702.1:n.573G>C
XR_241703.1:n.566G>C
XR_925614.1:n.573G>C
XR_925615.1:n.573G>C
NM_001364440.1:c.470G>C	NP_001351369.1:p.Ser157Thr
NM_001364441.1:c.470G>C	NP_001351370.1:p.Ser157Thr
NM_001364442.1:c.470G>C	NP_001351371.1:p.Ser157Thr
NM_024010.3:c.470G>C	NP_076915.3:p.Ser157Thr
NR_134480.1:n.593G>C
NR_134481.1:n.607G>C
NR_134482.1:n.453G>C
NR_157168.1:n.523G>C
NR_157169.1:n.383G>C
NR_157170.1:n.409G>C
NR_157171.1:n.383G>C
NR_157172.1:n.409G>C
NR_157173.1:n.537G>C
NR_157174.1:n.409G>C
NR_157175.1:n.563G>C
NR_157176.1:n.563G>C
NR_157177.1:n.558G>C
NR_157178.1:n.563G>C
XM_024446063.1:c.515G>C	XP_024301831.1:p.Ser172Thr
XM_024446064.1:c.470G>C	XP_024301832.1:p.Ser157Thr
XR_001742071.1:n.573G>C
XR_001742072.1:n.573G>C
XR_001742074.1:n.573G>C
XR_001742075.1:n.573G>C
XR_001742076.1:n.573G>C
XR_001742077.1:n.573G>C
NM_001364440.2:c.470G>C	NP_001351369.1:p.Ser157Thr
NM_001364441.2:c.470G>C	NP_001351370.1:p.Ser157Thr
NM_001364442.2:c.470G>C	NP_001351371.1:p.Ser157Thr
NM_002454.3:c.470G>C MANE Select	NP_002445.2:p.Ser157Thr
NM_024010.4:c.470G>C	NP_076915.3:p.Ser157Thr
NR_134480.2:n.549G>C
NR_134481.2:n.563G>C
NR_134482.2:n.409G>C
NR_157168.2:n.523G>C
NR_157169.2:n.383G>C
NR_157170.2:n.409G>C
NR_157171.2:n.383G>C
NR_157172.2:n.409G>C
NR_157173.2:n.537G>C
NR_157174.2:n.409G>C
NR_157175.2:n.563G>C
NR_157176.2:n.563G>C
NR_157177.2:n.558G>C
NR_157178.2:n.563G>C