Canonical Allele Identifier: CA359157848

Gene: MTRR

Linked Data

• ClinVar Variation Id: 2056907
• ClinVar RCV Id: RCV002923080
• MyVariant Identifiers: chr5:g.7885867C>G (hg19) ; chr5:g.7885754C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885754C>G , CM000667.2:g.7885754C>G	GRCh38
NC_000005.9:g.7885867C>G , CM000667.1:g.7885867C>G	GRCh37
NC_000005.8:g.7938867C>G	NCBI36
NG_008856.1:g.21651C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.957C>G MANE Select	ENSP00000402510.2:p.Asn319Lys
ENST00000264668.6:c.1038C>G	ENSP00000264668.2:p.Asn346Lys
ENST00000440940.6:c.957C>G	ENSP00000402510.2:p.Asn319Lys
ENST00000508101.5:n.197C>G
ENST00000510525.5:c.982C>G
ENST00000511461.5:c.870C>G
ENST00000513439.5:c.*664C>G	ENSP00000426710.1:n.*664C>G
NM_002454.2:c.957C>G	NP_002445.2:p.Asn319Lys
NM_024010.2:c.1038C>G	NP_076915.2:p.Asn346Lys
XM_006714474.2:c.1038C>G	XP_006714537.1:p.Asn346Lys
XM_011514043.1:c.1038C>G	XP_011512345.1:p.Asn346Lys
XM_011514044.1:c.957C>G	XP_011512346.1:p.Asn319Lys
XM_011514045.1:c.*11C>G	XP_011512347.1:n.*11C>G
XR_241702.1:n.1060C>G
XR_241703.1:n.1053C>G
XR_925614.1:n.1060C>G
XR_925615.1:n.1060C>G
NM_001364440.1:c.957C>G	NP_001351369.1:p.Asn319Lys
NM_001364441.1:c.957C>G	NP_001351370.1:p.Asn319Lys
NM_001364442.1:c.957C>G	NP_001351371.1:p.Asn319Lys
NM_024010.3:c.957C>G	NP_076915.3:p.Asn319Lys
NR_134480.1:n.1080C>G
NR_134481.1:n.1094C>G
NR_134482.1:n.940C>G
NR_157168.1:n.1010C>G
NR_157169.1:n.870C>G
NR_157170.1:n.1036C>G
NR_157171.1:n.870C>G
NR_157172.1:n.896C>G
NR_157173.1:n.1024C>G
NR_157174.1:n.896C>G
NR_157175.1:n.1050C>G
NR_157176.1:n.1190C>G
NR_157177.1:n.1045C>G
NR_157178.1:n.1050C>G
XM_024446063.1:c.1002C>G	XP_024301831.1:p.Asn334Lys
XM_024446064.1:c.957C>G	XP_024301832.1:p.Asn319Lys
XR_001742071.1:n.1060C>G
XR_001742072.1:n.1060C>G
XR_001742074.1:n.1060C>G
XR_001742075.1:n.1060C>G
XR_001742076.1:n.1200C>G
XR_001742077.1:n.1200C>G
NM_001364440.2:c.957C>G	NP_001351369.1:p.Asn319Lys
NM_001364441.2:c.957C>G	NP_001351370.1:p.Asn319Lys
NM_001364442.2:c.957C>G	NP_001351371.1:p.Asn319Lys
NM_002454.3:c.957C>G MANE Select	NP_002445.2:p.Asn319Lys
NM_024010.4:c.957C>G	NP_076915.3:p.Asn319Lys
NR_134480.2:n.1036C>G
NR_134481.2:n.1050C>G
NR_134482.2:n.896C>G
NR_157168.2:n.1010C>G
NR_157169.2:n.870C>G
NR_157170.2:n.1036C>G
NR_157171.2:n.870C>G
NR_157172.2:n.896C>G
NR_157173.2:n.1024C>G
NR_157174.2:n.896C>G
NR_157175.2:n.1050C>G
NR_157176.2:n.1190C>G
NR_157177.2:n.1045C>G
NR_157178.2:n.1050C>G