Canonical Allele Identifier: CA359156922

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878184A>C (hg19) ; chr5:g.7878071A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878071A>C , CM000667.2:g.7878071A>C	GRCh38
NC_000005.9:g.7878184A>C , CM000667.1:g.7878184A>C	GRCh37
NC_000005.8:g.7931184A>C	NCBI36
NG_008856.1:g.13968A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.529A>C MANE Select	ENSP00000402510.2:p.Thr177Pro
ENST00000264668.6:c.610A>C	ENSP00000264668.2:p.Thr204Pro
ENST00000440940.6:c.529A>C	ENSP00000402510.2:p.Thr177Pro
ENST00000508890.1:n.342A>C
ENST00000510279.5:c.*198A>C	ENSP00000427200.1:n.*198A>C
ENST00000510525.5:c.554A>C
ENST00000511461.5:c.442A>C
ENST00000513439.5:c.*236A>C	ENSP00000426710.1:n.*236A>C
ENST00000514220.5:c.314A>C
ENST00000514369.5:c.*193A>C	ENSP00000426132.1:n.*193A>C
NM_002454.2:c.529A>C	NP_002445.2:p.Thr177Pro
NM_024010.2:c.610A>C	NP_076915.2:p.Thr204Pro
XM_006714474.2:c.610A>C	XP_006714537.1:p.Thr204Pro
XM_011514043.1:c.610A>C	XP_011512345.1:p.Thr204Pro
XM_011514044.1:c.529A>C	XP_011512346.1:p.Thr177Pro
XM_011514045.1:c.610A>C	XP_011512347.1:p.Thr204Pro
XR_241702.1:n.632A>C
XR_241703.1:n.625A>C
XR_925614.1:n.632A>C
XR_925615.1:n.632A>C
NM_001364440.1:c.529A>C	NP_001351369.1:p.Thr177Pro
NM_001364441.1:c.529A>C	NP_001351370.1:p.Thr177Pro
NM_001364442.1:c.529A>C	NP_001351371.1:p.Thr177Pro
NM_024010.3:c.529A>C	NP_076915.3:p.Thr177Pro
NR_134480.1:n.652A>C
NR_134481.1:n.666A>C
NR_134482.1:n.512A>C
NR_157168.1:n.582A>C
NR_157169.1:n.442A>C
NR_157170.1:n.468A>C
NR_157171.1:n.442A>C
NR_157172.1:n.468A>C
NR_157173.1:n.596A>C
NR_157174.1:n.468A>C
NR_157175.1:n.622A>C
NR_157176.1:n.622A>C
NR_157177.1:n.617A>C
NR_157178.1:n.622A>C
XM_024446063.1:c.574A>C	XP_024301831.1:p.Thr192Pro
XM_024446064.1:c.529A>C	XP_024301832.1:p.Thr177Pro
XR_001742071.1:n.632A>C
XR_001742072.1:n.632A>C
XR_001742074.1:n.632A>C
XR_001742075.1:n.632A>C
XR_001742076.1:n.632A>C
XR_001742077.1:n.632A>C
NM_001364440.2:c.529A>C	NP_001351369.1:p.Thr177Pro
NM_001364441.2:c.529A>C	NP_001351370.1:p.Thr177Pro
NM_001364442.2:c.529A>C	NP_001351371.1:p.Thr177Pro
NM_002454.3:c.529A>C MANE Select	NP_002445.2:p.Thr177Pro
NM_024010.4:c.529A>C	NP_076915.3:p.Thr177Pro
NR_134480.2:n.608A>C
NR_134481.2:n.622A>C
NR_134482.2:n.468A>C
NR_157168.2:n.582A>C
NR_157169.2:n.442A>C
NR_157170.2:n.468A>C
NR_157171.2:n.442A>C
NR_157172.2:n.468A>C
NR_157173.2:n.596A>C
NR_157174.2:n.468A>C
NR_157175.2:n.622A>C
NR_157176.2:n.622A>C
NR_157177.2:n.617A>C
NR_157178.2:n.622A>C