Canonical Allele Identifier: CA359158714

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7891500T>C (hg19) ; chr5:g.7891387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891387T>C , CM000667.2:g.7891387T>C	GRCh38
NC_000005.9:g.7891500T>C , CM000667.1:g.7891500T>C	GRCh37
NC_000005.8:g.7944500T>C	NCBI36
NG_008856.1:g.27284T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1343T>C MANE Select	ENSP00000402510.2:p.Leu448Pro
ENST00000264668.6:c.1424T>C	ENSP00000264668.2:p.Leu475Pro
ENST00000440940.6:c.1343T>C	ENSP00000402510.2:p.Leu448Pro
ENST00000507202.1:n.19T>C
ENST00000507414.1:n.83T>C
ENST00000508101.5:n.583T>C
ENST00000510525.5:c.1279T>C
ENST00000511461.5:c.1256T>C
ENST00000512311.5:n.322T>C
ENST00000513439.5:c.*1050T>C	ENSP00000426710.1:n.*1050T>C
NM_002454.2:c.1343T>C	NP_002445.2:p.Leu448Pro
NM_024010.2:c.1424T>C	NP_076915.2:p.Leu475Pro
XM_011514043.1:c.1424T>C	XP_011512345.1:p.Leu475Pro
XM_011514044.1:c.1343T>C	XP_011512346.1:p.Leu448Pro
XR_241702.1:n.1357T>C
XR_241703.1:n.1350T>C
XR_925614.1:n.1469T>C
XR_925615.1:n.1621T>C
NM_001364440.1:c.1343T>C	NP_001351369.1:p.Leu448Pro
NM_001364441.1:c.1343T>C	NP_001351370.1:p.Leu448Pro
NM_001364442.1:c.1343T>C	NP_001351371.1:p.Leu448Pro
NM_024010.3:c.1343T>C	NP_076915.3:p.Leu448Pro
NR_134480.1:n.1466T>C
NR_134481.1:n.1391T>C
NR_134482.1:n.1326T>C
NR_157168.1:n.1396T>C
NR_157169.1:n.1256T>C
NR_157170.1:n.1422T>C
NR_157171.1:n.1279T>C
NR_157172.1:n.1193T>C
NR_157173.1:n.1433T>C
NR_157174.1:n.1434T>C
NR_157175.1:n.1588T>C
NR_157176.1:n.1751T>C
NR_157177.1:n.1431T>C
NR_157178.1:n.1459T>C
XM_024446063.1:c.1388T>C	XP_024301831.1:p.Leu463Pro
XM_024446064.1:c.1343T>C	XP_024301832.1:p.Leu448Pro
XR_001742071.1:n.1621T>C
XR_001742072.1:n.1598T>C
XR_001742074.1:n.1357T>C
XR_001742075.1:n.1509T>C
XR_001742076.1:n.1586T>C
XR_001742077.1:n.1609T>C
NM_001364440.2:c.1343T>C	NP_001351369.1:p.Leu448Pro
NM_001364441.2:c.1343T>C	NP_001351370.1:p.Leu448Pro
NM_001364442.2:c.1343T>C	NP_001351371.1:p.Leu448Pro
NM_002454.3:c.1343T>C MANE Select	NP_002445.2:p.Leu448Pro
NM_024010.4:c.1343T>C	NP_076915.3:p.Leu448Pro
NR_134480.2:n.1422T>C
NR_134481.2:n.1347T>C
NR_134482.2:n.1282T>C
NR_157168.2:n.1396T>C
NR_157169.2:n.1256T>C
NR_157170.2:n.1422T>C
NR_157171.2:n.1279T>C
NR_157172.2:n.1193T>C
NR_157173.2:n.1433T>C
NR_157174.2:n.1434T>C
NR_157175.2:n.1588T>C
NR_157176.2:n.1751T>C
NR_157177.2:n.1431T>C
NR_157178.2:n.1459T>C