Canonical Allele Identifier: CA443248091

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878318T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878205T>C , CM000667.2:g.7878205T>C	GRCh38
NC_000005.9:g.7878318T>C , CM000667.1:g.7878318T>C	GRCh37
NC_000005.8:g.7931318T>C	NCBI36
NG_008856.1:g.14102T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.663T>C MANE Select	ENSP00000402510.2:p.Ile221=
ENST00000264668.6:c.744T>C	ENSP00000264668.2:p.Ile248=
ENST00000440940.6:c.663T>C	ENSP00000402510.2:p.Ile221=
ENST00000510525.5:c.688T>C
ENST00000511461.5:c.576T>C
ENST00000513439.5:c.*370T>C	ENSP00000426710.1:n.*370T>C
ENST00000514220.5:c.448T>C
ENST00000514369.5:c.*327T>C	ENSP00000426132.1:n.*327T>C
NM_002454.2:c.663T>C	NP_002445.2:p.Ile221=
NM_024010.2:c.744T>C	NP_076915.2:p.Ile248=
XM_006714474.2:c.744T>C	XP_006714537.1:p.Ile248=
XM_011514043.1:c.744T>C	XP_011512345.1:p.Ile248=
XM_011514044.1:c.663T>C	XP_011512346.1:p.Ile221=
XM_011514045.1:c.744T>C	XP_011512347.1:p.Ile248=
XR_241702.1:n.766T>C
XR_241703.1:n.759T>C
XR_925614.1:n.766T>C
XR_925615.1:n.766T>C
NM_001364440.1:c.663T>C	NP_001351369.1:p.Ile221=
NM_001364441.1:c.663T>C	NP_001351370.1:p.Ile221=
NM_001364442.1:c.663T>C	NP_001351371.1:p.Ile221=
NM_024010.3:c.663T>C	NP_076915.3:p.Ile221=
NR_134480.1:n.786T>C
NR_134481.1:n.800T>C
NR_134482.1:n.646T>C
NR_157168.1:n.716T>C
NR_157169.1:n.576T>C
NR_157170.1:n.602T>C
NR_157171.1:n.576T>C
NR_157172.1:n.602T>C
NR_157173.1:n.730T>C
NR_157174.1:n.602T>C
NR_157175.1:n.756T>C
NR_157176.1:n.756T>C
NR_157177.1:n.751T>C
NR_157178.1:n.756T>C
XM_024446063.1:c.708T>C	XP_024301831.1:p.Ile236=
XM_024446064.1:c.663T>C	XP_024301832.1:p.Ile221=
XR_001742071.1:n.766T>C
XR_001742072.1:n.766T>C
XR_001742074.1:n.766T>C
XR_001742075.1:n.766T>C
XR_001742076.1:n.766T>C
XR_001742077.1:n.766T>C
NM_001364440.2:c.663T>C	NP_001351369.1:p.Ile221=
NM_001364441.2:c.663T>C	NP_001351370.1:p.Ile221=
NM_001364442.2:c.663T>C	NP_001351371.1:p.Ile221=
NM_002454.3:c.663T>C MANE Select	NP_002445.2:p.Ile221=
NM_024010.4:c.663T>C	NP_076915.3:p.Ile221=
NR_134480.2:n.742T>C
NR_134481.2:n.756T>C
NR_134482.2:n.602T>C
NR_157168.2:n.716T>C
NR_157169.2:n.576T>C
NR_157170.2:n.602T>C
NR_157171.2:n.576T>C
NR_157172.2:n.602T>C
NR_157173.2:n.730T>C
NR_157174.2:n.602T>C
NR_157175.2:n.756T>C
NR_157176.2:n.756T>C
NR_157177.2:n.751T>C
NR_157178.2:n.756T>C