Canonical Allele Identifier: CA359159209

Gene: MTRR

Linked Data

• dbSNP Id: rs1343250131
• gnomAD v2: 5-7895863-G-T
• MyVariant Identifiers: chr5:g.7895863G>T (hg19) ; chr5:g.7895750G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895750G>T , CM000667.2:g.7895750G>T	GRCh38
NC_000005.9:g.7895863G>T , CM000667.1:g.7895863G>T	GRCh37
NC_000005.8:g.7948863G>T	NCBI36
NG_008856.1:g.31647G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1574G>T MANE Select	ENSP00000402510.2:p.Arg525Leu
ENST00000264668.6:c.1655G>T	ENSP00000264668.2:p.Arg552Leu
ENST00000440940.6:c.1574G>T	ENSP00000402510.2:p.Arg525Leu
ENST00000510525.5:c.1510G>T
ENST00000511461.5:c.1487G>T
ENST00000513439.5:c.*1281G>T	ENSP00000426710.1:n.*1281G>T
NM_002454.2:c.1574G>T	NP_002445.2:p.Arg525Leu
NM_024010.2:c.1655G>T	NP_076915.2:p.Arg552Leu
XM_011514043.1:c.1655G>T	XP_011512345.1:p.Arg552Leu
XM_011514044.1:c.1574G>T	XP_011512346.1:p.Arg525Leu
XR_241702.1:n.1588G>T
XR_241703.1:n.1581G>T
XR_925614.1:n.1700G>T
NM_001364440.1:c.1574G>T	NP_001351369.1:p.Arg525Leu
NM_001364441.1:c.1574G>T	NP_001351370.1:p.Arg525Leu
NM_001364442.1:c.1574G>T	NP_001351371.1:p.Arg525Leu
NM_024010.3:c.1574G>T	NP_076915.3:p.Arg525Leu
NR_134480.1:n.1697G>T
NR_134481.1:n.1622G>T
NR_134482.1:n.1557G>T
NR_157168.1:n.1627G>T
NR_157169.1:n.1487G>T
NR_157170.1:n.1653G>T
NR_157171.1:n.1510G>T
NR_157172.1:n.1424G>T
NR_157173.1:n.1664G>T
NR_157174.1:n.1665G>T
NR_157175.1:n.1819G>T
NR_157176.1:n.1982G>T
NR_157177.1:n.1662G>T
NR_157178.1:n.1690G>T
XM_024446063.1:c.1619G>T	XP_024301831.1:p.Arg540Leu
XM_024446064.1:c.1574G>T	XP_024301832.1:p.Arg525Leu
XR_001742071.1:n.1852G>T
XR_001742072.1:n.1829G>T
XR_001742074.1:n.1588G>T
XR_001742075.1:n.1740G>T
XR_001742076.1:n.1817G>T
XR_001742077.1:n.1840G>T
NM_001364440.2:c.1574G>T	NP_001351369.1:p.Arg525Leu
NM_001364441.2:c.1574G>T	NP_001351370.1:p.Arg525Leu
NM_001364442.2:c.1574G>T	NP_001351371.1:p.Arg525Leu
NM_002454.3:c.1574G>T MANE Select	NP_002445.2:p.Arg525Leu
NM_024010.4:c.1574G>T	NP_076915.3:p.Arg525Leu
NR_134480.2:n.1653G>T
NR_134481.2:n.1578G>T
NR_134482.2:n.1513G>T
NR_157168.2:n.1627G>T
NR_157169.2:n.1487G>T
NR_157170.2:n.1653G>T
NR_157171.2:n.1510G>T
NR_157172.2:n.1424G>T
NR_157173.2:n.1664G>T
NR_157174.2:n.1665G>T
NR_157175.2:n.1819G>T
NR_157176.2:n.1982G>T
NR_157177.2:n.1662G>T
NR_157178.2:n.1690G>T