Canonical Allele Identifier: CA359158721

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7891503A>T (hg19) ; chr5:g.7891390A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891390A>T , CM000667.2:g.7891390A>T	GRCh38
NC_000005.9:g.7891503A>T , CM000667.1:g.7891503A>T	GRCh37
NC_000005.8:g.7944503A>T	NCBI36
NG_008856.1:g.27287A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1346A>T MANE Select	ENSP00000402510.2:p.Gln449Leu
ENST00000264668.6:c.1427A>T	ENSP00000264668.2:p.Gln476Leu
ENST00000440940.6:c.1346A>T	ENSP00000402510.2:p.Gln449Leu
ENST00000507202.1:n.22A>T
ENST00000507414.1:n.86A>T
ENST00000510525.5:c.1282A>T
ENST00000511461.5:c.1259A>T
ENST00000512311.5:n.325A>T
ENST00000513439.5:c.*1053A>T	ENSP00000426710.1:n.*1053A>T
NM_002454.2:c.1346A>T	NP_002445.2:p.Gln449Leu
NM_024010.2:c.1427A>T	NP_076915.2:p.Gln476Leu
XM_011514043.1:c.1427A>T	XP_011512345.1:p.Gln476Leu
XM_011514044.1:c.1346A>T	XP_011512346.1:p.Gln449Leu
XR_241702.1:n.1360A>T
XR_241703.1:n.1353A>T
XR_925614.1:n.1472A>T
XR_925615.1:n.1624A>T
NM_001364440.1:c.1346A>T	NP_001351369.1:p.Gln449Leu
NM_001364441.1:c.1346A>T	NP_001351370.1:p.Gln449Leu
NM_001364442.1:c.1346A>T	NP_001351371.1:p.Gln449Leu
NM_024010.3:c.1346A>T	NP_076915.3:p.Gln449Leu
NR_134480.1:n.1469A>T
NR_134481.1:n.1394A>T
NR_134482.1:n.1329A>T
NR_157168.1:n.1399A>T
NR_157169.1:n.1259A>T
NR_157170.1:n.1425A>T
NR_157171.1:n.1282A>T
NR_157172.1:n.1196A>T
NR_157173.1:n.1436A>T
NR_157174.1:n.1437A>T
NR_157175.1:n.1591A>T
NR_157176.1:n.1754A>T
NR_157177.1:n.1434A>T
NR_157178.1:n.1462A>T
XM_024446063.1:c.1391A>T	XP_024301831.1:p.Gln464Leu
XM_024446064.1:c.1346A>T	XP_024301832.1:p.Gln449Leu
XR_001742071.1:n.1624A>T
XR_001742072.1:n.1601A>T
XR_001742074.1:n.1360A>T
XR_001742075.1:n.1512A>T
XR_001742076.1:n.1589A>T
XR_001742077.1:n.1612A>T
NM_001364440.2:c.1346A>T	NP_001351369.1:p.Gln449Leu
NM_001364441.2:c.1346A>T	NP_001351370.1:p.Gln449Leu
NM_001364442.2:c.1346A>T	NP_001351371.1:p.Gln449Leu
NM_002454.3:c.1346A>T MANE Select	NP_002445.2:p.Gln449Leu
NM_024010.4:c.1346A>T	NP_076915.3:p.Gln449Leu
NR_134480.2:n.1425A>T
NR_134481.2:n.1350A>T
NR_134482.2:n.1285A>T
NR_157168.2:n.1399A>T
NR_157169.2:n.1259A>T
NR_157170.2:n.1425A>T
NR_157171.2:n.1282A>T
NR_157172.2:n.1196A>T
NR_157173.2:n.1436A>T
NR_157174.2:n.1437A>T
NR_157175.2:n.1591A>T
NR_157176.2:n.1754A>T
NR_157177.2:n.1434A>T
NR_157178.2:n.1462A>T