Canonical Allele Identifier: CA359158710

Gene: MTRR

Linked Data

• gnomAD v4: 5-7891386-C-A
• MyVariant Identifiers: chr5:g.7891499C>A (hg19) ; chr5:g.7891386C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891386C>A , CM000667.2:g.7891386C>A	GRCh38
NC_000005.9:g.7891499C>A , CM000667.1:g.7891499C>A	GRCh37
NC_000005.8:g.7944499C>A	NCBI36
NG_008856.1:g.27283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1342C>A MANE Select	ENSP00000402510.2:p.Leu448Ile
ENST00000264668.6:c.1423C>A	ENSP00000264668.2:p.Leu475Ile
ENST00000440940.6:c.1342C>A	ENSP00000402510.2:p.Leu448Ile
ENST00000507202.1:n.18C>A
ENST00000507414.1:n.82C>A
ENST00000508101.5:n.582C>A
ENST00000510525.5:c.1278C>A
ENST00000511461.5:c.1255C>A
ENST00000512311.5:n.321C>A
ENST00000513439.5:c.*1049C>A	ENSP00000426710.1:n.*1049C>A
NM_002454.2:c.1342C>A	NP_002445.2:p.Leu448Ile
NM_024010.2:c.1423C>A	NP_076915.2:p.Leu475Ile
XM_011514043.1:c.1423C>A	XP_011512345.1:p.Leu475Ile
XM_011514044.1:c.1342C>A	XP_011512346.1:p.Leu448Ile
XR_241702.1:n.1356C>A
XR_241703.1:n.1349C>A
XR_925614.1:n.1468C>A
XR_925615.1:n.1620C>A
NM_001364440.1:c.1342C>A	NP_001351369.1:p.Leu448Ile
NM_001364441.1:c.1342C>A	NP_001351370.1:p.Leu448Ile
NM_001364442.1:c.1342C>A	NP_001351371.1:p.Leu448Ile
NM_024010.3:c.1342C>A	NP_076915.3:p.Leu448Ile
NR_134480.1:n.1465C>A
NR_134481.1:n.1390C>A
NR_134482.1:n.1325C>A
NR_157168.1:n.1395C>A
NR_157169.1:n.1255C>A
NR_157170.1:n.1421C>A
NR_157171.1:n.1278C>A
NR_157172.1:n.1192C>A
NR_157173.1:n.1432C>A
NR_157174.1:n.1433C>A
NR_157175.1:n.1587C>A
NR_157176.1:n.1750C>A
NR_157177.1:n.1430C>A
NR_157178.1:n.1458C>A
XM_024446063.1:c.1387C>A	XP_024301831.1:p.Leu463Ile
XM_024446064.1:c.1342C>A	XP_024301832.1:p.Leu448Ile
XR_001742071.1:n.1620C>A
XR_001742072.1:n.1597C>A
XR_001742074.1:n.1356C>A
XR_001742075.1:n.1508C>A
XR_001742076.1:n.1585C>A
XR_001742077.1:n.1608C>A
NM_001364440.2:c.1342C>A	NP_001351369.1:p.Leu448Ile
NM_001364441.2:c.1342C>A	NP_001351370.1:p.Leu448Ile
NM_001364442.2:c.1342C>A	NP_001351371.1:p.Leu448Ile
NM_002454.3:c.1342C>A MANE Select	NP_002445.2:p.Leu448Ile
NM_024010.4:c.1342C>A	NP_076915.3:p.Leu448Ile
NR_134480.2:n.1421C>A
NR_134481.2:n.1346C>A
NR_134482.2:n.1281C>A
NR_157168.2:n.1395C>A
NR_157169.2:n.1255C>A
NR_157170.2:n.1421C>A
NR_157171.2:n.1278C>A
NR_157172.2:n.1192C>A
NR_157173.2:n.1432C>A
NR_157174.2:n.1433C>A
NR_157175.2:n.1587C>A
NR_157176.2:n.1750C>A
NR_157177.2:n.1430C>A
NR_157178.2:n.1458C>A