Canonical Allele Identifier: CA359158707

Gene: MTRR

Linked Data

• gnomAD v4: 5-7891384-A-G
• MyVariant Identifiers: chr5:g.7891497A>G (hg19) ; chr5:g.7891384A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891384A>G , CM000667.2:g.7891384A>G	GRCh38
NC_000005.9:g.7891497A>G , CM000667.1:g.7891497A>G	GRCh37
NC_000005.8:g.7944497A>G	NCBI36
NG_008856.1:g.27281A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1340A>G MANE Select	ENSP00000402510.2:p.Lys447Arg
ENST00000264668.6:c.1421A>G	ENSP00000264668.2:p.Lys474Arg
ENST00000440940.6:c.1340A>G	ENSP00000402510.2:p.Lys447Arg
ENST00000507202.1:n.16A>G
ENST00000507414.1:n.80A>G
ENST00000508101.5:n.580A>G
ENST00000510525.5:c.1276A>G
ENST00000511461.5:c.1253A>G
ENST00000512311.5:n.319A>G
ENST00000513439.5:c.*1047A>G	ENSP00000426710.1:n.*1047A>G
NM_002454.2:c.1340A>G	NP_002445.2:p.Lys447Arg
NM_024010.2:c.1421A>G	NP_076915.2:p.Lys474Arg
XM_011514043.1:c.1421A>G	XP_011512345.1:p.Lys474Arg
XM_011514044.1:c.1340A>G	XP_011512346.1:p.Lys447Arg
XR_241702.1:n.1354A>G
XR_241703.1:n.1347A>G
XR_925614.1:n.1466A>G
XR_925615.1:n.1618A>G
NM_001364440.1:c.1340A>G	NP_001351369.1:p.Lys447Arg
NM_001364441.1:c.1340A>G	NP_001351370.1:p.Lys447Arg
NM_001364442.1:c.1340A>G	NP_001351371.1:p.Lys447Arg
NM_024010.3:c.1340A>G	NP_076915.3:p.Lys447Arg
NR_134480.1:n.1463A>G
NR_134481.1:n.1388A>G
NR_134482.1:n.1323A>G
NR_157168.1:n.1393A>G
NR_157169.1:n.1253A>G
NR_157170.1:n.1419A>G
NR_157171.1:n.1276A>G
NR_157172.1:n.1190A>G
NR_157173.1:n.1430A>G
NR_157174.1:n.1431A>G
NR_157175.1:n.1585A>G
NR_157176.1:n.1748A>G
NR_157177.1:n.1428A>G
NR_157178.1:n.1456A>G
XM_024446063.1:c.1385A>G	XP_024301831.1:p.Lys462Arg
XM_024446064.1:c.1340A>G	XP_024301832.1:p.Lys447Arg
XR_001742071.1:n.1618A>G
XR_001742072.1:n.1595A>G
XR_001742074.1:n.1354A>G
XR_001742075.1:n.1506A>G
XR_001742076.1:n.1583A>G
XR_001742077.1:n.1606A>G
NM_001364440.2:c.1340A>G	NP_001351369.1:p.Lys447Arg
NM_001364441.2:c.1340A>G	NP_001351370.1:p.Lys447Arg
NM_001364442.2:c.1340A>G	NP_001351371.1:p.Lys447Arg
NM_002454.3:c.1340A>G MANE Select	NP_002445.2:p.Lys447Arg
NM_024010.4:c.1340A>G	NP_076915.3:p.Lys447Arg
NR_134480.2:n.1419A>G
NR_134481.2:n.1344A>G
NR_134482.2:n.1279A>G
NR_157168.2:n.1393A>G
NR_157169.2:n.1253A>G
NR_157170.2:n.1419A>G
NR_157171.2:n.1276A>G
NR_157172.2:n.1190A>G
NR_157173.2:n.1430A>G
NR_157174.2:n.1431A>G
NR_157175.2:n.1585A>G
NR_157176.2:n.1748A>G
NR_157177.2:n.1428A>G
NR_157178.2:n.1456A>G