Canonical Allele Identifier: CA443128928

Gene: MTRR

Linked Data

• ClinVar Variation Id: 2125834
• ClinVar RCV Id: RCV003049774
• MyVariant Identifiers: chr5:g.7878171T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878058T>G , CM000667.2:g.7878058T>G	GRCh38
NC_000005.9:g.7878171T>G , CM000667.1:g.7878171T>G	GRCh37
NC_000005.8:g.7931171T>G	NCBI36
NG_008856.1:g.13955T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.516T>G MANE Select	ENSP00000402510.2:p.Pro172=
ENST00000264668.6:c.597T>G	ENSP00000264668.2:p.Pro199=
ENST00000440940.6:c.516T>G	ENSP00000402510.2:p.Pro172=
ENST00000508890.1:n.329T>G
ENST00000510279.5:c.*185T>G	ENSP00000427200.1:n.*185T>G
ENST00000510525.5:c.541T>G
ENST00000511461.5:c.429T>G
ENST00000513439.5:c.*223T>G	ENSP00000426710.1:n.*223T>G
ENST00000514220.5:c.301T>G
ENST00000514369.5:c.*180T>G	ENSP00000426132.1:n.*180T>G
NM_002454.2:c.516T>G	NP_002445.2:p.Pro172=
NM_024010.2:c.597T>G	NP_076915.2:p.Pro199=
XM_006714474.2:c.597T>G	XP_006714537.1:p.Pro199=
XM_011514043.1:c.597T>G	XP_011512345.1:p.Pro199=
XM_011514044.1:c.516T>G	XP_011512346.1:p.Pro172=
XM_011514045.1:c.597T>G	XP_011512347.1:p.Pro199=
XR_241702.1:n.619T>G
XR_241703.1:n.612T>G
XR_925614.1:n.619T>G
XR_925615.1:n.619T>G
NM_001364440.1:c.516T>G	NP_001351369.1:p.Pro172=
NM_001364441.1:c.516T>G	NP_001351370.1:p.Pro172=
NM_001364442.1:c.516T>G	NP_001351371.1:p.Pro172=
NM_024010.3:c.516T>G	NP_076915.3:p.Pro172=
NR_134480.1:n.639T>G
NR_134481.1:n.653T>G
NR_134482.1:n.499T>G
NR_157168.1:n.569T>G
NR_157169.1:n.429T>G
NR_157170.1:n.455T>G
NR_157171.1:n.429T>G
NR_157172.1:n.455T>G
NR_157173.1:n.583T>G
NR_157174.1:n.455T>G
NR_157175.1:n.609T>G
NR_157176.1:n.609T>G
NR_157177.1:n.604T>G
NR_157178.1:n.609T>G
XM_024446063.1:c.561T>G	XP_024301831.1:p.Pro187=
XM_024446064.1:c.516T>G	XP_024301832.1:p.Pro172=
XR_001742071.1:n.619T>G
XR_001742072.1:n.619T>G
XR_001742074.1:n.619T>G
XR_001742075.1:n.619T>G
XR_001742076.1:n.619T>G
XR_001742077.1:n.619T>G
NM_001364440.2:c.516T>G	NP_001351369.1:p.Pro172=
NM_001364441.2:c.516T>G	NP_001351370.1:p.Pro172=
NM_001364442.2:c.516T>G	NP_001351371.1:p.Pro172=
NM_002454.3:c.516T>G MANE Select	NP_002445.2:p.Pro172=
NM_024010.4:c.516T>G	NP_076915.3:p.Pro172=
NR_134480.2:n.595T>G
NR_134481.2:n.609T>G
NR_134482.2:n.455T>G
NR_157168.2:n.569T>G
NR_157169.2:n.429T>G
NR_157170.2:n.455T>G
NR_157171.2:n.429T>G
NR_157172.2:n.455T>G
NR_157173.2:n.583T>G
NR_157174.2:n.455T>G
NR_157175.2:n.609T>G
NR_157176.2:n.609T>G
NR_157177.2:n.604T>G
NR_157178.2:n.609T>G