Canonical Allele Identifier: CA443128918

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878156C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878043C>A , CM000667.2:g.7878043C>A	GRCh38
NC_000005.9:g.7878156C>A , CM000667.1:g.7878156C>A	GRCh37
NC_000005.8:g.7931156C>A	NCBI36
NG_008856.1:g.13940C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.501C>A MANE Select	ENSP00000402510.2:p.Leu167=
ENST00000264668.6:c.582C>A	ENSP00000264668.2:p.Leu194=
ENST00000440940.6:c.501C>A	ENSP00000402510.2:p.Leu167=
ENST00000508890.1:n.314C>A
ENST00000510279.5:c.*170C>A	ENSP00000427200.1:n.*170C>A
ENST00000510525.5:c.526C>A
ENST00000511461.5:c.414C>A
ENST00000513439.5:c.*208C>A	ENSP00000426710.1:n.*208C>A
ENST00000514220.5:c.286C>A
ENST00000514369.5:c.*165C>A	ENSP00000426132.1:n.*165C>A
NM_002454.2:c.501C>A	NP_002445.2:p.Leu167=
NM_024010.2:c.582C>A	NP_076915.2:p.Leu194=
XM_006714474.2:c.582C>A	XP_006714537.1:p.Leu194=
XM_011514043.1:c.582C>A	XP_011512345.1:p.Leu194=
XM_011514044.1:c.501C>A	XP_011512346.1:p.Leu167=
XM_011514045.1:c.582C>A	XP_011512347.1:p.Leu194=
XR_241702.1:n.604C>A
XR_241703.1:n.597C>A
XR_925614.1:n.604C>A
XR_925615.1:n.604C>A
NM_001364440.1:c.501C>A	NP_001351369.1:p.Leu167=
NM_001364441.1:c.501C>A	NP_001351370.1:p.Leu167=
NM_001364442.1:c.501C>A	NP_001351371.1:p.Leu167=
NM_024010.3:c.501C>A	NP_076915.3:p.Leu167=
NR_134480.1:n.624C>A
NR_134481.1:n.638C>A
NR_134482.1:n.484C>A
NR_157168.1:n.554C>A
NR_157169.1:n.414C>A
NR_157170.1:n.440C>A
NR_157171.1:n.414C>A
NR_157172.1:n.440C>A
NR_157173.1:n.568C>A
NR_157174.1:n.440C>A
NR_157175.1:n.594C>A
NR_157176.1:n.594C>A
NR_157177.1:n.589C>A
NR_157178.1:n.594C>A
XM_024446063.1:c.546C>A	XP_024301831.1:p.Leu182=
XM_024446064.1:c.501C>A	XP_024301832.1:p.Leu167=
XR_001742071.1:n.604C>A
XR_001742072.1:n.604C>A
XR_001742074.1:n.604C>A
XR_001742075.1:n.604C>A
XR_001742076.1:n.604C>A
XR_001742077.1:n.604C>A
NM_001364440.2:c.501C>A	NP_001351369.1:p.Leu167=
NM_001364441.2:c.501C>A	NP_001351370.1:p.Leu167=
NM_001364442.2:c.501C>A	NP_001351371.1:p.Leu167=
NM_002454.3:c.501C>A MANE Select	NP_002445.2:p.Leu167=
NM_024010.4:c.501C>A	NP_076915.3:p.Leu167=
NR_134480.2:n.580C>A
NR_134481.2:n.594C>A
NR_134482.2:n.440C>A
NR_157168.2:n.554C>A
NR_157169.2:n.414C>A
NR_157170.2:n.440C>A
NR_157171.2:n.414C>A
NR_157172.2:n.440C>A
NR_157173.2:n.568C>A
NR_157174.2:n.440C>A
NR_157175.2:n.594C>A
NR_157176.2:n.594C>A
NR_157177.2:n.589C>A
NR_157178.2:n.594C>A