Canonical Allele Identifier: CA359158733

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7891510A>C (hg19) ; chr5:g.7891397A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891397A>C , CM000667.2:g.7891397A>C	GRCh38
NC_000005.9:g.7891510A>C , CM000667.1:g.7891510A>C	GRCh37
NC_000005.8:g.7944510A>C	NCBI36
NG_008856.1:g.27294A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1353A>C MANE Select	ENSP00000402510.2:p.Arg451Ser
ENST00000264668.6:c.1434A>C	ENSP00000264668.2:p.Arg478Ser
ENST00000440940.6:c.1353A>C	ENSP00000402510.2:p.Arg451Ser
ENST00000507202.1:n.29A>C
ENST00000507414.1:n.93A>C
ENST00000510525.5:c.1289A>C
ENST00000511461.5:c.1266A>C
ENST00000512311.5:n.332A>C
ENST00000513439.5:c.*1060A>C	ENSP00000426710.1:n.*1060A>C
NM_002454.2:c.1353A>C	NP_002445.2:p.Arg451Ser
NM_024010.2:c.1434A>C	NP_076915.2:p.Arg478Ser
XM_011514043.1:c.1434A>C	XP_011512345.1:p.Arg478Ser
XM_011514044.1:c.1353A>C	XP_011512346.1:p.Arg451Ser
XR_241702.1:n.1367A>C
XR_241703.1:n.1360A>C
XR_925614.1:n.1479A>C
XR_925615.1:n.1631A>C
NM_001364440.1:c.1353A>C	NP_001351369.1:p.Arg451Ser
NM_001364441.1:c.1353A>C	NP_001351370.1:p.Arg451Ser
NM_001364442.1:c.1353A>C	NP_001351371.1:p.Arg451Ser
NM_024010.3:c.1353A>C	NP_076915.3:p.Arg451Ser
NR_134480.1:n.1476A>C
NR_134481.1:n.1401A>C
NR_134482.1:n.1336A>C
NR_157168.1:n.1406A>C
NR_157169.1:n.1266A>C
NR_157170.1:n.1432A>C
NR_157171.1:n.1289A>C
NR_157172.1:n.1203A>C
NR_157173.1:n.1443A>C
NR_157174.1:n.1444A>C
NR_157175.1:n.1598A>C
NR_157176.1:n.1761A>C
NR_157177.1:n.1441A>C
NR_157178.1:n.1469A>C
XM_024446063.1:c.1398A>C	XP_024301831.1:p.Arg466Ser
XM_024446064.1:c.1353A>C	XP_024301832.1:p.Arg451Ser
XR_001742071.1:n.1631A>C
XR_001742072.1:n.1608A>C
XR_001742074.1:n.1367A>C
XR_001742075.1:n.1519A>C
XR_001742076.1:n.1596A>C
XR_001742077.1:n.1619A>C
NM_001364440.2:c.1353A>C	NP_001351369.1:p.Arg451Ser
NM_001364441.2:c.1353A>C	NP_001351370.1:p.Arg451Ser
NM_001364442.2:c.1353A>C	NP_001351371.1:p.Arg451Ser
NM_002454.3:c.1353A>C MANE Select	NP_002445.2:p.Arg451Ser
NM_024010.4:c.1353A>C	NP_076915.3:p.Arg451Ser
NR_134480.2:n.1432A>C
NR_134481.2:n.1357A>C
NR_134482.2:n.1292A>C
NR_157168.2:n.1406A>C
NR_157169.2:n.1266A>C
NR_157170.2:n.1432A>C
NR_157171.2:n.1289A>C
NR_157172.2:n.1203A>C
NR_157173.2:n.1443A>C
NR_157174.2:n.1444A>C
NR_157175.2:n.1598A>C
NR_157176.2:n.1761A>C
NR_157177.2:n.1441A>C
NR_157178.2:n.1469A>C