Canonical Allele Identifier: CA3195613

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1085091
• ClinVar RCV Id: RCV001402349
• dbSNP Id: rs139333376
• ExAC: 5:7878150 C / T
• gnomAD v2: 5-7878150-C-T
• gnomAD v3: 5-7878037-C-T
• gnomAD v4: 5-7878037-C-T
• COSMIC: COSM257450
• MyVariant Identifiers: chr5:g.7878150C>T (hg19) ; chr5:g.7878037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878037C>T , CM000667.2:g.7878037C>T	GRCh38
NC_000005.9:g.7878150C>T , CM000667.1:g.7878150C>T	GRCh37
NC_000005.8:g.7931150C>T	NCBI36
NG_008856.1:g.13934C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.495C>T MANE Select	ENSP00000402510.2:p.Gly165=
ENST00000264668.6:c.576C>T	ENSP00000264668.2:p.Gly192=
ENST00000440940.6:c.495C>T	ENSP00000402510.2:p.Gly165=
ENST00000502509.5:n.710C>T
ENST00000508890.1:n.308C>T
ENST00000510279.5:c.*164C>T	ENSP00000427200.1:n.*164C>T
ENST00000510525.5:c.520C>T
ENST00000511461.5:c.408C>T
ENST00000513439.5:c.*202C>T	ENSP00000426710.1:n.*202C>T
ENST00000514220.5:c.280C>T
ENST00000514369.5:c.*159C>T	ENSP00000426132.1:n.*159C>T
NM_002454.2:c.495C>T	NP_002445.2:p.Gly165=
NM_024010.2:c.576C>T	NP_076915.2:p.Gly192=
XM_006714474.2:c.576C>T	XP_006714537.1:p.Gly192=
XM_011514043.1:c.576C>T	XP_011512345.1:p.Gly192=
XM_011514044.1:c.495C>T	XP_011512346.1:p.Gly165=
XM_011514045.1:c.576C>T	XP_011512347.1:p.Gly192=
XR_241702.1:n.598C>T
XR_241703.1:n.591C>T
XR_925614.1:n.598C>T
XR_925615.1:n.598C>T
NM_001364440.1:c.495C>T	NP_001351369.1:p.Gly165=
NM_001364441.1:c.495C>T	NP_001351370.1:p.Gly165=
NM_001364442.1:c.495C>T	NP_001351371.1:p.Gly165=
NM_024010.3:c.495C>T	NP_076915.3:p.Gly165=
NR_134480.1:n.618C>T
NR_134481.1:n.632C>T
NR_134482.1:n.478C>T
NR_157168.1:n.548C>T
NR_157169.1:n.408C>T
NR_157170.1:n.434C>T
NR_157171.1:n.408C>T
NR_157172.1:n.434C>T
NR_157173.1:n.562C>T
NR_157174.1:n.434C>T
NR_157175.1:n.588C>T
NR_157176.1:n.588C>T
NR_157177.1:n.583C>T
NR_157178.1:n.588C>T
XM_024446063.1:c.540C>T	XP_024301831.1:p.Gly180=
XM_024446064.1:c.495C>T	XP_024301832.1:p.Gly165=
XR_001742071.1:n.598C>T
XR_001742072.1:n.598C>T
XR_001742074.1:n.598C>T
XR_001742075.1:n.598C>T
XR_001742076.1:n.598C>T
XR_001742077.1:n.598C>T
NM_001364440.2:c.495C>T	NP_001351369.1:p.Gly165=
NM_001364441.2:c.495C>T	NP_001351370.1:p.Gly165=
NM_001364442.2:c.495C>T	NP_001351371.1:p.Gly165=
NM_002454.3:c.495C>T MANE Select	NP_002445.2:p.Gly165=
NM_024010.4:c.495C>T	NP_076915.3:p.Gly165=
NR_134480.2:n.574C>T
NR_134481.2:n.588C>T
NR_134482.2:n.434C>T
NR_157168.2:n.548C>T
NR_157169.2:n.408C>T
NR_157170.2:n.434C>T
NR_157171.2:n.408C>T
NR_157172.2:n.434C>T
NR_157173.2:n.562C>T
NR_157174.2:n.434C>T
NR_157175.2:n.588C>T
NR_157176.2:n.588C>T
NR_157177.2:n.583C>T
NR_157178.2:n.588C>T