Canonical Allele Identifier: CA443129490

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7895888A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895775A>C , CM000667.2:g.7895775A>C	GRCh38
NC_000005.9:g.7895888A>C , CM000667.1:g.7895888A>C	GRCh37
NC_000005.8:g.7948888A>C	NCBI36
NG_008856.1:g.31672A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1599A>C MANE Select	ENSP00000402510.2:p.Pro533=
ENST00000264668.6:c.1680A>C	ENSP00000264668.2:p.Pro560=
ENST00000440940.6:c.1599A>C	ENSP00000402510.2:p.Pro533=
ENST00000510525.5:c.1535A>C
ENST00000511461.5:c.1512A>C
ENST00000513439.5:c.*1306A>C	ENSP00000426710.1:n.*1306A>C
NM_002454.2:c.1599A>C	NP_002445.2:p.Pro533=
NM_024010.2:c.1680A>C	NP_076915.2:p.Pro560=
XM_011514043.1:c.1680A>C	XP_011512345.1:p.Pro560=
XM_011514044.1:c.1599A>C	XP_011512346.1:p.Pro533=
XR_241702.1:n.1613A>C
XR_241703.1:n.1606A>C
XR_925614.1:n.1725A>C
NM_001364440.1:c.1599A>C	NP_001351369.1:p.Pro533=
NM_001364441.1:c.1599A>C	NP_001351370.1:p.Pro533=
NM_001364442.1:c.1599A>C	NP_001351371.1:p.Pro533=
NM_024010.3:c.1599A>C	NP_076915.3:p.Pro533=
NR_134480.1:n.1722A>C
NR_134481.1:n.1647A>C
NR_134482.1:n.1582A>C
NR_157168.1:n.1652A>C
NR_157169.1:n.1512A>C
NR_157170.1:n.1678A>C
NR_157171.1:n.1535A>C
NR_157172.1:n.1449A>C
NR_157173.1:n.1689A>C
NR_157174.1:n.1690A>C
NR_157175.1:n.1844A>C
NR_157176.1:n.2007A>C
NR_157177.1:n.1687A>C
NR_157178.1:n.1715A>C
XM_024446063.1:c.1644A>C	XP_024301831.1:p.Pro548=
XM_024446064.1:c.1599A>C	XP_024301832.1:p.Pro533=
XR_001742071.1:n.1877A>C
XR_001742072.1:n.1854A>C
XR_001742074.1:n.1613A>C
XR_001742075.1:n.1765A>C
XR_001742076.1:n.1842A>C
XR_001742077.1:n.1865A>C
NM_001364440.2:c.1599A>C	NP_001351369.1:p.Pro533=
NM_001364441.2:c.1599A>C	NP_001351370.1:p.Pro533=
NM_001364442.2:c.1599A>C	NP_001351371.1:p.Pro533=
NM_002454.3:c.1599A>C MANE Select	NP_002445.2:p.Pro533=
NM_024010.4:c.1599A>C	NP_076915.3:p.Pro533=
NR_134480.2:n.1678A>C
NR_134481.2:n.1603A>C
NR_134482.2:n.1538A>C
NR_157168.2:n.1652A>C
NR_157169.2:n.1512A>C
NR_157170.2:n.1678A>C
NR_157171.2:n.1535A>C
NR_157172.2:n.1449A>C
NR_157173.2:n.1689A>C
NR_157174.2:n.1690A>C
NR_157175.2:n.1844A>C
NR_157176.2:n.2007A>C
NR_157177.2:n.1687A>C
NR_157178.2:n.1715A>C