Canonical Allele Identifier: CA359156898

Gene: MTRR

Linked Data

• COSMIC: COSM5737169
• MyVariant Identifiers: chr5:g.7878172G>A (hg19) ; chr5:g.7878059G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878059G>A , CM000667.2:g.7878059G>A	GRCh38
NC_000005.9:g.7878172G>A , CM000667.1:g.7878172G>A	GRCh37
NC_000005.8:g.7931172G>A	NCBI36
NG_008856.1:g.13956G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.517G>A MANE Select	ENSP00000402510.2:p.Ala173Thr
ENST00000264668.6:c.598G>A	ENSP00000264668.2:p.Ala200Thr
ENST00000440940.6:c.517G>A	ENSP00000402510.2:p.Ala173Thr
ENST00000508890.1:n.330G>A
ENST00000510279.5:c.*186G>A	ENSP00000427200.1:n.*186G>A
ENST00000510525.5:c.542G>A
ENST00000511461.5:c.430G>A
ENST00000513439.5:c.*224G>A	ENSP00000426710.1:n.*224G>A
ENST00000514220.5:c.302G>A
ENST00000514369.5:c.*181G>A	ENSP00000426132.1:n.*181G>A
NM_002454.2:c.517G>A	NP_002445.2:p.Ala173Thr
NM_024010.2:c.598G>A	NP_076915.2:p.Ala200Thr
XM_006714474.2:c.598G>A	XP_006714537.1:p.Ala200Thr
XM_011514043.1:c.598G>A	XP_011512345.1:p.Ala200Thr
XM_011514044.1:c.517G>A	XP_011512346.1:p.Ala173Thr
XM_011514045.1:c.598G>A	XP_011512347.1:p.Ala200Thr
XR_241702.1:n.620G>A
XR_241703.1:n.613G>A
XR_925614.1:n.620G>A
XR_925615.1:n.620G>A
NM_001364440.1:c.517G>A	NP_001351369.1:p.Ala173Thr
NM_001364441.1:c.517G>A	NP_001351370.1:p.Ala173Thr
NM_001364442.1:c.517G>A	NP_001351371.1:p.Ala173Thr
NM_024010.3:c.517G>A	NP_076915.3:p.Ala173Thr
NR_134480.1:n.640G>A
NR_134481.1:n.654G>A
NR_134482.1:n.500G>A
NR_157168.1:n.570G>A
NR_157169.1:n.430G>A
NR_157170.1:n.456G>A
NR_157171.1:n.430G>A
NR_157172.1:n.456G>A
NR_157173.1:n.584G>A
NR_157174.1:n.456G>A
NR_157175.1:n.610G>A
NR_157176.1:n.610G>A
NR_157177.1:n.605G>A
NR_157178.1:n.610G>A
XM_024446063.1:c.562G>A	XP_024301831.1:p.Ala188Thr
XM_024446064.1:c.517G>A	XP_024301832.1:p.Ala173Thr
XR_001742071.1:n.620G>A
XR_001742072.1:n.620G>A
XR_001742074.1:n.620G>A
XR_001742075.1:n.620G>A
XR_001742076.1:n.620G>A
XR_001742077.1:n.620G>A
NM_001364440.2:c.517G>A	NP_001351369.1:p.Ala173Thr
NM_001364441.2:c.517G>A	NP_001351370.1:p.Ala173Thr
NM_001364442.2:c.517G>A	NP_001351371.1:p.Ala173Thr
NM_002454.3:c.517G>A MANE Select	NP_002445.2:p.Ala173Thr
NM_024010.4:c.517G>A	NP_076915.3:p.Ala173Thr
NR_134480.2:n.596G>A
NR_134481.2:n.610G>A
NR_134482.2:n.456G>A
NR_157168.2:n.570G>A
NR_157169.2:n.430G>A
NR_157170.2:n.456G>A
NR_157171.2:n.430G>A
NR_157172.2:n.456G>A
NR_157173.2:n.584G>A
NR_157174.2:n.456G>A
NR_157175.2:n.610G>A
NR_157176.2:n.610G>A
NR_157177.2:n.605G>A
NR_157178.2:n.610G>A