Canonical Allele Identifier: CA3195603

Gene: MTRR

Linked Data

• ClinVar Variation Id: 966720
• ClinVar RCV Id: RCV001241466
• dbSNP Id: rs754157293
• ExAC: 5:7878060 A / C
• gnomAD v2: 5-7878060-A-C
• gnomAD v3: 5-7877947-A-C
• gnomAD v4: 5-7877947-A-C
• MyVariant Identifiers: chr5:g.7878060A>C (hg19) ; chr5:g.7877947A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7877947A>C , CM000667.2:g.7877947A>C	GRCh38
NC_000005.9:g.7878060A>C , CM000667.1:g.7878060A>C	GRCh37
NC_000005.8:g.7931060A>C	NCBI36
NG_008856.1:g.13844A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.405A>C MANE Select	ENSP00000402510.2:p.Leu135Phe
ENST00000264668.6:c.486A>C	ENSP00000264668.2:p.Leu162Phe
ENST00000440940.6:c.405A>C	ENSP00000402510.2:p.Leu135Phe
ENST00000502509.5:n.620A>C
ENST00000502550.5:c.405A>C	ENSP00000424599.1:p.Leu135Phe
ENST00000503550.5:c.*340A>C	ENSP00000424644.1:n.*340A>C
ENST00000508047.5:c.458A>C
ENST00000508890.1:n.218A>C
ENST00000510279.5:c.*74A>C	ENSP00000427200.1:n.*74A>C
ENST00000510525.5:c.430A>C
ENST00000511461.5:c.318A>C
ENST00000513439.5:c.*112A>C	ENSP00000426710.1:n.*112A>C
ENST00000514220.5:c.190A>C
ENST00000514369.5:c.*71-2A>C	ENSP00000426132.1:n.*71-2A>C
NM_002454.2:c.405A>C	NP_002445.2:p.Leu135Phe
NM_024010.2:c.486A>C	NP_076915.2:p.Leu162Phe
XM_006714474.2:c.486A>C	XP_006714537.1:p.Leu162Phe
XM_011514043.1:c.486A>C	XP_011512345.1:p.Leu162Phe
XM_011514044.1:c.405A>C	XP_011512346.1:p.Leu135Phe
XM_011514045.1:c.486A>C	XP_011512347.1:p.Leu162Phe
XR_241702.1:n.508A>C
XR_241703.1:n.501A>C
XR_925614.1:n.508A>C
XR_925615.1:n.508A>C
NM_001364440.1:c.405A>C	NP_001351369.1:p.Leu135Phe
NM_001364441.1:c.405A>C	NP_001351370.1:p.Leu135Phe
NM_001364442.1:c.405A>C	NP_001351371.1:p.Leu135Phe
NM_024010.3:c.405A>C	NP_076915.3:p.Leu135Phe
NR_134480.1:n.528A>C
NR_134481.1:n.542A>C
NR_134482.1:n.388A>C
NR_157168.1:n.458A>C
NR_157169.1:n.318A>C
NR_157170.1:n.344A>C
NR_157171.1:n.318A>C
NR_157172.1:n.344A>C
NR_157173.1:n.472A>C
NR_157174.1:n.344A>C
NR_157175.1:n.498A>C
NR_157176.1:n.498A>C
NR_157177.1:n.495-2A>C
NR_157178.1:n.498A>C
XM_024446063.1:c.450A>C	XP_024301831.1:p.Leu150Phe
XM_024446064.1:c.405A>C	XP_024301832.1:p.Leu135Phe
XR_001742071.1:n.508A>C
XR_001742072.1:n.508A>C
XR_001742074.1:n.508A>C
XR_001742075.1:n.508A>C
XR_001742076.1:n.508A>C
XR_001742077.1:n.508A>C
NM_001364440.2:c.405A>C	NP_001351369.1:p.Leu135Phe
NM_001364441.2:c.405A>C	NP_001351370.1:p.Leu135Phe
NM_001364442.2:c.405A>C	NP_001351371.1:p.Leu135Phe
NM_002454.3:c.405A>C MANE Select	NP_002445.2:p.Leu135Phe
NM_024010.4:c.405A>C	NP_076915.3:p.Leu135Phe
NR_134480.2:n.484A>C
NR_134481.2:n.498A>C
NR_134482.2:n.344A>C
NR_157168.2:n.458A>C
NR_157169.2:n.318A>C
NR_157170.2:n.344A>C
NR_157171.2:n.318A>C
NR_157172.2:n.344A>C
NR_157173.2:n.472A>C
NR_157174.2:n.344A>C
NR_157175.2:n.498A>C
NR_157176.2:n.498A>C
NR_157177.2:n.495-2A>C
NR_157178.2:n.498A>C