Canonical Allele Identifier: CA359157125

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878279G>T (hg19) ; chr5:g.7878166G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878166G>T , CM000667.2:g.7878166G>T	GRCh38
NC_000005.9:g.7878279G>T , CM000667.1:g.7878279G>T	GRCh37
NC_000005.8:g.7931279G>T	NCBI36
NG_008856.1:g.14063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.624G>T MANE Select	ENSP00000402510.2:p.Lys208Asn
ENST00000264668.6:c.705G>T	ENSP00000264668.2:p.Lys235Asn
ENST00000440940.6:c.624G>T	ENSP00000402510.2:p.Lys208Asn
ENST00000510525.5:c.649G>T
ENST00000511461.5:c.537G>T
ENST00000513439.5:c.*331G>T	ENSP00000426710.1:n.*331G>T
ENST00000514220.5:c.409G>T
ENST00000514369.5:c.*288G>T	ENSP00000426132.1:n.*288G>T
NM_002454.2:c.624G>T	NP_002445.2:p.Lys208Asn
NM_024010.2:c.705G>T	NP_076915.2:p.Lys235Asn
XM_006714474.2:c.705G>T	XP_006714537.1:p.Lys235Asn
XM_011514043.1:c.705G>T	XP_011512345.1:p.Lys235Asn
XM_011514044.1:c.624G>T	XP_011512346.1:p.Lys208Asn
XM_011514045.1:c.705G>T	XP_011512347.1:p.Lys235Asn
XR_241702.1:n.727G>T
XR_241703.1:n.720G>T
XR_925614.1:n.727G>T
XR_925615.1:n.727G>T
NM_001364440.1:c.624G>T	NP_001351369.1:p.Lys208Asn
NM_001364441.1:c.624G>T	NP_001351370.1:p.Lys208Asn
NM_001364442.1:c.624G>T	NP_001351371.1:p.Lys208Asn
NM_024010.3:c.624G>T	NP_076915.3:p.Lys208Asn
NR_134480.1:n.747G>T
NR_134481.1:n.761G>T
NR_134482.1:n.607G>T
NR_157168.1:n.677G>T
NR_157169.1:n.537G>T
NR_157170.1:n.563G>T
NR_157171.1:n.537G>T
NR_157172.1:n.563G>T
NR_157173.1:n.691G>T
NR_157174.1:n.563G>T
NR_157175.1:n.717G>T
NR_157176.1:n.717G>T
NR_157177.1:n.712G>T
NR_157178.1:n.717G>T
XM_024446063.1:c.669G>T	XP_024301831.1:p.Lys223Asn
XM_024446064.1:c.624G>T	XP_024301832.1:p.Lys208Asn
XR_001742071.1:n.727G>T
XR_001742072.1:n.727G>T
XR_001742074.1:n.727G>T
XR_001742075.1:n.727G>T
XR_001742076.1:n.727G>T
XR_001742077.1:n.727G>T
NM_001364440.2:c.624G>T	NP_001351369.1:p.Lys208Asn
NM_001364441.2:c.624G>T	NP_001351370.1:p.Lys208Asn
NM_001364442.2:c.624G>T	NP_001351371.1:p.Lys208Asn
NM_002454.3:c.624G>T MANE Select	NP_002445.2:p.Lys208Asn
NM_024010.4:c.624G>T	NP_076915.3:p.Lys208Asn
NR_134480.2:n.703G>T
NR_134481.2:n.717G>T
NR_134482.2:n.563G>T
NR_157168.2:n.677G>T
NR_157169.2:n.537G>T
NR_157170.2:n.563G>T
NR_157171.2:n.537G>T
NR_157172.2:n.563G>T
NR_157173.2:n.691G>T
NR_157174.2:n.563G>T
NR_157175.2:n.717G>T
NR_157176.2:n.717G>T
NR_157177.2:n.712G>T
NR_157178.2:n.717G>T