Canonical Allele Identifier: CA359156755

Gene: MTRR

Linked Data

• gnomAD v4: 5-7877990-C-G
• MyVariant Identifiers: chr5:g.7878103C>G (hg19) ; chr5:g.7877990C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7877990C>G , CM000667.2:g.7877990C>G	GRCh38
NC_000005.9:g.7878103C>G , CM000667.1:g.7878103C>G	GRCh37
NC_000005.8:g.7931103C>G	NCBI36
NG_008856.1:g.13887C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.448C>G MANE Select	ENSP00000402510.2:p.Leu150Val
ENST00000264668.6:c.529C>G	ENSP00000264668.2:p.Leu177Val
ENST00000440940.6:c.448C>G	ENSP00000402510.2:p.Leu150Val
ENST00000502509.5:n.663C>G
ENST00000502550.5:c.448C>G	ENSP00000424599.1:p.Leu150Val
ENST00000508047.5:c.501C>G
ENST00000508890.1:n.261C>G
ENST00000510279.5:c.*117C>G	ENSP00000427200.1:n.*117C>G
ENST00000510525.5:c.473C>G
ENST00000511461.5:c.361C>G
ENST00000513439.5:c.*155C>G	ENSP00000426710.1:n.*155C>G
ENST00000514220.5:c.233C>G
ENST00000514369.5:c.*112C>G	ENSP00000426132.1:n.*112C>G
NM_002454.2:c.448C>G	NP_002445.2:p.Leu150Val
NM_024010.2:c.529C>G	NP_076915.2:p.Leu177Val
XM_006714474.2:c.529C>G	XP_006714537.1:p.Leu177Val
XM_011514043.1:c.529C>G	XP_011512345.1:p.Leu177Val
XM_011514044.1:c.448C>G	XP_011512346.1:p.Leu150Val
XM_011514045.1:c.529C>G	XP_011512347.1:p.Leu177Val
XR_241702.1:n.551C>G
XR_241703.1:n.544C>G
XR_925614.1:n.551C>G
XR_925615.1:n.551C>G
NM_001364440.1:c.448C>G	NP_001351369.1:p.Leu150Val
NM_001364441.1:c.448C>G	NP_001351370.1:p.Leu150Val
NM_001364442.1:c.448C>G	NP_001351371.1:p.Leu150Val
NM_024010.3:c.448C>G	NP_076915.3:p.Leu150Val
NR_134480.1:n.571C>G
NR_134481.1:n.585C>G
NR_134482.1:n.431C>G
NR_157168.1:n.501C>G
NR_157169.1:n.361C>G
NR_157170.1:n.387C>G
NR_157171.1:n.361C>G
NR_157172.1:n.387C>G
NR_157173.1:n.515C>G
NR_157174.1:n.387C>G
NR_157175.1:n.541C>G
NR_157176.1:n.541C>G
NR_157177.1:n.536C>G
NR_157178.1:n.541C>G
XM_024446063.1:c.493C>G	XP_024301831.1:p.Leu165Val
XM_024446064.1:c.448C>G	XP_024301832.1:p.Leu150Val
XR_001742071.1:n.551C>G
XR_001742072.1:n.551C>G
XR_001742074.1:n.551C>G
XR_001742075.1:n.551C>G
XR_001742076.1:n.551C>G
XR_001742077.1:n.551C>G
NM_001364440.2:c.448C>G	NP_001351369.1:p.Leu150Val
NM_001364441.2:c.448C>G	NP_001351370.1:p.Leu150Val
NM_001364442.2:c.448C>G	NP_001351371.1:p.Leu150Val
NM_002454.3:c.448C>G MANE Select	NP_002445.2:p.Leu150Val
NM_024010.4:c.448C>G	NP_076915.3:p.Leu150Val
NR_134480.2:n.527C>G
NR_134481.2:n.541C>G
NR_134482.2:n.387C>G
NR_157168.2:n.501C>G
NR_157169.2:n.361C>G
NR_157170.2:n.387C>G
NR_157171.2:n.361C>G
NR_157172.2:n.387C>G
NR_157173.2:n.515C>G
NR_157174.2:n.387C>G
NR_157175.2:n.541C>G
NR_157176.2:n.541C>G
NR_157177.2:n.536C>G
NR_157178.2:n.541C>G