Canonical Allele Identifier: CA443129306

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7891501T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891388T>C , CM000667.2:g.7891388T>C	GRCh38
NC_000005.9:g.7891501T>C , CM000667.1:g.7891501T>C	GRCh37
NC_000005.8:g.7944501T>C	NCBI36
NG_008856.1:g.27285T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1344T>C MANE Select	ENSP00000402510.2:p.Leu448=
ENST00000264668.6:c.1425T>C	ENSP00000264668.2:p.Leu475=
ENST00000440940.6:c.1344T>C	ENSP00000402510.2:p.Leu448=
ENST00000507202.1:n.20T>C
ENST00000507414.1:n.84T>C
ENST00000508101.5:n.584T>C
ENST00000510525.5:c.1280T>C
ENST00000511461.5:c.1257T>C
ENST00000512311.5:n.323T>C
ENST00000513439.5:c.*1051T>C	ENSP00000426710.1:n.*1051T>C
NM_002454.2:c.1344T>C	NP_002445.2:p.Leu448=
NM_024010.2:c.1425T>C	NP_076915.2:p.Leu475=
XM_011514043.1:c.1425T>C	XP_011512345.1:p.Leu475=
XM_011514044.1:c.1344T>C	XP_011512346.1:p.Leu448=
XR_241702.1:n.1358T>C
XR_241703.1:n.1351T>C
XR_925614.1:n.1470T>C
XR_925615.1:n.1622T>C
NM_001364440.1:c.1344T>C	NP_001351369.1:p.Leu448=
NM_001364441.1:c.1344T>C	NP_001351370.1:p.Leu448=
NM_001364442.1:c.1344T>C	NP_001351371.1:p.Leu448=
NM_024010.3:c.1344T>C	NP_076915.3:p.Leu448=
NR_134480.1:n.1467T>C
NR_134481.1:n.1392T>C
NR_134482.1:n.1327T>C
NR_157168.1:n.1397T>C
NR_157169.1:n.1257T>C
NR_157170.1:n.1423T>C
NR_157171.1:n.1280T>C
NR_157172.1:n.1194T>C
NR_157173.1:n.1434T>C
NR_157174.1:n.1435T>C
NR_157175.1:n.1589T>C
NR_157176.1:n.1752T>C
NR_157177.1:n.1432T>C
NR_157178.1:n.1460T>C
XM_024446063.1:c.1389T>C	XP_024301831.1:p.Leu463=
XM_024446064.1:c.1344T>C	XP_024301832.1:p.Leu448=
XR_001742071.1:n.1622T>C
XR_001742072.1:n.1599T>C
XR_001742074.1:n.1358T>C
XR_001742075.1:n.1510T>C
XR_001742076.1:n.1587T>C
XR_001742077.1:n.1610T>C
NM_001364440.2:c.1344T>C	NP_001351369.1:p.Leu448=
NM_001364441.2:c.1344T>C	NP_001351370.1:p.Leu448=
NM_001364442.2:c.1344T>C	NP_001351371.1:p.Leu448=
NM_002454.3:c.1344T>C MANE Select	NP_002445.2:p.Leu448=
NM_024010.4:c.1344T>C	NP_076915.3:p.Leu448=
NR_134480.2:n.1423T>C
NR_134481.2:n.1348T>C
NR_134482.2:n.1283T>C
NR_157168.2:n.1397T>C
NR_157169.2:n.1257T>C
NR_157170.2:n.1423T>C
NR_157171.2:n.1280T>C
NR_157172.2:n.1194T>C
NR_157173.2:n.1434T>C
NR_157174.2:n.1435T>C
NR_157175.2:n.1589T>C
NR_157176.2:n.1752T>C
NR_157177.2:n.1432T>C
NR_157178.2:n.1460T>C