Canonical Allele Identifier: CA359156689

Gene: MTRR

Linked Data

• gnomAD v4: 5-7877960-G-T
• MyVariant Identifiers: chr5:g.7878073G>T (hg19) ; chr5:g.7877960G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7877960G>T , CM000667.2:g.7877960G>T	GRCh38
NC_000005.9:g.7878073G>T , CM000667.1:g.7878073G>T	GRCh37
NC_000005.8:g.7931073G>T	NCBI36
NG_008856.1:g.13857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.418G>T MANE Select	ENSP00000402510.2:p.Glu140Ter
ENST00000264668.6:c.499G>T	ENSP00000264668.2:p.Glu167Ter
ENST00000440940.6:c.418G>T	ENSP00000402510.2:p.Glu140Ter
ENST00000502509.5:n.633G>T
ENST00000502550.5:c.418G>T	ENSP00000424599.1:p.Glu140Ter
ENST00000503550.5:c.*353G>T	ENSP00000424644.1:n.*353G>T
ENST00000508047.5:c.471G>T
ENST00000508890.1:n.231G>T
ENST00000510279.5:c.*87G>T	ENSP00000427200.1:n.*87G>T
ENST00000510525.5:c.443G>T
ENST00000511461.5:c.331G>T
ENST00000513439.5:c.*125G>T	ENSP00000426710.1:n.*125G>T
ENST00000514220.5:c.203G>T
ENST00000514369.5:c.*82G>T	ENSP00000426132.1:n.*82G>T
NM_002454.2:c.418G>T	NP_002445.2:p.Glu140Ter
NM_024010.2:c.499G>T	NP_076915.2:p.Glu167Ter
XM_006714474.2:c.499G>T	XP_006714537.1:p.Glu167Ter
XM_011514043.1:c.499G>T	XP_011512345.1:p.Glu167Ter
XM_011514044.1:c.418G>T	XP_011512346.1:p.Glu140Ter
XM_011514045.1:c.499G>T	XP_011512347.1:p.Glu167Ter
XR_241702.1:n.521G>T
XR_241703.1:n.514G>T
XR_925614.1:n.521G>T
XR_925615.1:n.521G>T
NM_001364440.1:c.418G>T	NP_001351369.1:p.Glu140Ter
NM_001364441.1:c.418G>T	NP_001351370.1:p.Glu140Ter
NM_001364442.1:c.418G>T	NP_001351371.1:p.Glu140Ter
NM_024010.3:c.418G>T	NP_076915.3:p.Glu140Ter
NR_134480.1:n.541G>T
NR_134481.1:n.555G>T
NR_134482.1:n.401G>T
NR_157168.1:n.471G>T
NR_157169.1:n.331G>T
NR_157170.1:n.357G>T
NR_157171.1:n.331G>T
NR_157172.1:n.357G>T
NR_157173.1:n.485G>T
NR_157174.1:n.357G>T
NR_157175.1:n.511G>T
NR_157176.1:n.511G>T
NR_157177.1:n.506G>T
NR_157178.1:n.511G>T
XM_024446063.1:c.463G>T	XP_024301831.1:p.Glu155Ter
XM_024446064.1:c.418G>T	XP_024301832.1:p.Glu140Ter
XR_001742071.1:n.521G>T
XR_001742072.1:n.521G>T
XR_001742074.1:n.521G>T
XR_001742075.1:n.521G>T
XR_001742076.1:n.521G>T
XR_001742077.1:n.521G>T
NM_001364440.2:c.418G>T	NP_001351369.1:p.Glu140Ter
NM_001364441.2:c.418G>T	NP_001351370.1:p.Glu140Ter
NM_001364442.2:c.418G>T	NP_001351371.1:p.Glu140Ter
NM_002454.3:c.418G>T MANE Select	NP_002445.2:p.Glu140Ter
NM_024010.4:c.418G>T	NP_076915.3:p.Glu140Ter
NR_134480.2:n.497G>T
NR_134481.2:n.511G>T
NR_134482.2:n.357G>T
NR_157168.2:n.471G>T
NR_157169.2:n.331G>T
NR_157170.2:n.357G>T
NR_157171.2:n.331G>T
NR_157172.2:n.357G>T
NR_157173.2:n.485G>T
NR_157174.2:n.357G>T
NR_157175.2:n.511G>T
NR_157176.2:n.511G>T
NR_157177.2:n.506G>T
NR_157178.2:n.511G>T