Canonical Allele Identifier: CA443129298

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7891492T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891379T>C , CM000667.2:g.7891379T>C	GRCh38
NC_000005.9:g.7891492T>C , CM000667.1:g.7891492T>C	GRCh37
NC_000005.8:g.7944492T>C	NCBI36
NG_008856.1:g.27276T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1335T>C MANE Select	ENSP00000402510.2:p.Leu445=
ENST00000264668.6:c.1416T>C	ENSP00000264668.2:p.Leu472=
ENST00000440940.6:c.1335T>C	ENSP00000402510.2:p.Leu445=
ENST00000507202.1:n.11T>C
ENST00000507414.1:n.75T>C
ENST00000508101.5:n.575T>C
ENST00000510525.5:c.1271T>C
ENST00000511461.5:c.1248T>C
ENST00000512311.5:n.314T>C
ENST00000513439.5:c.*1042T>C	ENSP00000426710.1:n.*1042T>C
NM_002454.2:c.1335T>C	NP_002445.2:p.Leu445=
NM_024010.2:c.1416T>C	NP_076915.2:p.Leu472=
XM_011514043.1:c.1416T>C	XP_011512345.1:p.Leu472=
XM_011514044.1:c.1335T>C	XP_011512346.1:p.Leu445=
XR_241702.1:n.1349T>C
XR_241703.1:n.1342T>C
XR_925614.1:n.1461T>C
XR_925615.1:n.1613T>C
NM_001364440.1:c.1335T>C	NP_001351369.1:p.Leu445=
NM_001364441.1:c.1335T>C	NP_001351370.1:p.Leu445=
NM_001364442.1:c.1335T>C	NP_001351371.1:p.Leu445=
NM_024010.3:c.1335T>C	NP_076915.3:p.Leu445=
NR_134480.1:n.1458T>C
NR_134481.1:n.1383T>C
NR_134482.1:n.1318T>C
NR_157168.1:n.1388T>C
NR_157169.1:n.1248T>C
NR_157170.1:n.1414T>C
NR_157171.1:n.1271T>C
NR_157172.1:n.1185T>C
NR_157173.1:n.1425T>C
NR_157174.1:n.1426T>C
NR_157175.1:n.1580T>C
NR_157176.1:n.1743T>C
NR_157177.1:n.1423T>C
NR_157178.1:n.1451T>C
XM_024446063.1:c.1380T>C	XP_024301831.1:p.Leu460=
XM_024446064.1:c.1335T>C	XP_024301832.1:p.Leu445=
XR_001742071.1:n.1613T>C
XR_001742072.1:n.1590T>C
XR_001742074.1:n.1349T>C
XR_001742075.1:n.1501T>C
XR_001742076.1:n.1578T>C
XR_001742077.1:n.1601T>C
NM_001364440.2:c.1335T>C	NP_001351369.1:p.Leu445=
NM_001364441.2:c.1335T>C	NP_001351370.1:p.Leu445=
NM_001364442.2:c.1335T>C	NP_001351371.1:p.Leu445=
NM_002454.3:c.1335T>C MANE Select	NP_002445.2:p.Leu445=
NM_024010.4:c.1335T>C	NP_076915.3:p.Leu445=
NR_134480.2:n.1414T>C
NR_134481.2:n.1339T>C
NR_134482.2:n.1274T>C
NR_157168.2:n.1388T>C
NR_157169.2:n.1248T>C
NR_157170.2:n.1414T>C
NR_157171.2:n.1271T>C
NR_157172.2:n.1185T>C
NR_157173.2:n.1425T>C
NR_157174.2:n.1426T>C
NR_157175.2:n.1580T>C
NR_157176.2:n.1743T>C
NR_157177.2:n.1423T>C
NR_157178.2:n.1451T>C