Canonical Allele Identifier: CA443129041

Gene: MTRR

Linked Data

• ClinVar Variation Id: 745196
• ClinVar RCV Id: RCV000921706
• dbSNP Id: rs1475861942
• gnomAD v2: 5-7885849-C-T
• gnomAD v4: 5-7885736-C-T
• MyVariant Identifiers: chr5:g.7885849C>T (hg19) ; chr5:g.7885736C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7885736C>T , CM000667.2:g.7885736C>T	GRCh38
NC_000005.9:g.7885849C>T , CM000667.1:g.7885849C>T	GRCh37
NC_000005.8:g.7938849C>T	NCBI36
NG_008856.1:g.21633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.939C>T MANE Select	ENSP00000402510.2:p.Phe313=
ENST00000264668.6:c.1020C>T	ENSP00000264668.2:p.Phe340=
ENST00000440940.6:c.939C>T	ENSP00000402510.2:p.Phe313=
ENST00000508101.5:n.179C>T
ENST00000510525.5:c.964C>T
ENST00000511461.5:c.852C>T
ENST00000513439.5:c.*646C>T	ENSP00000426710.1:n.*646C>T
NM_002454.2:c.939C>T	NP_002445.2:p.Phe313=
NM_024010.2:c.1020C>T	NP_076915.2:p.Phe340=
XM_006714474.2:c.1020C>T	XP_006714537.1:p.Phe340=
XM_011514043.1:c.1020C>T	XP_011512345.1:p.Phe340=
XM_011514044.1:c.939C>T	XP_011512346.1:p.Phe313=
XM_011514045.1:c.1160C>T	XP_011512347.1:p.Ser387Leu
XR_241702.1:n.1042C>T
XR_241703.1:n.1035C>T
XR_925614.1:n.1042C>T
XR_925615.1:n.1042C>T
NM_001364440.1:c.939C>T	NP_001351369.1:p.Phe313=
NM_001364441.1:c.939C>T	NP_001351370.1:p.Phe313=
NM_001364442.1:c.939C>T	NP_001351371.1:p.Phe313=
NM_024010.3:c.939C>T	NP_076915.3:p.Phe313=
NR_134480.1:n.1062C>T
NR_134481.1:n.1076C>T
NR_134482.1:n.922C>T
NR_157168.1:n.992C>T
NR_157169.1:n.852C>T
NR_157170.1:n.1018C>T
NR_157171.1:n.852C>T
NR_157172.1:n.878C>T
NR_157173.1:n.1006C>T
NR_157174.1:n.878C>T
NR_157175.1:n.1032C>T
NR_157176.1:n.1172C>T
NR_157177.1:n.1027C>T
NR_157178.1:n.1032C>T
XM_024446063.1:c.984C>T	XP_024301831.1:p.Phe328=
XM_024446064.1:c.939C>T	XP_024301832.1:p.Phe313=
XR_001742071.1:n.1042C>T
XR_001742072.1:n.1042C>T
XR_001742074.1:n.1042C>T
XR_001742075.1:n.1042C>T
XR_001742076.1:n.1182C>T
XR_001742077.1:n.1182C>T
NM_001364440.2:c.939C>T	NP_001351369.1:p.Phe313=
NM_001364441.2:c.939C>T	NP_001351370.1:p.Phe313=
NM_001364442.2:c.939C>T	NP_001351371.1:p.Phe313=
NM_002454.3:c.939C>T MANE Select	NP_002445.2:p.Phe313=
NM_024010.4:c.939C>T	NP_076915.3:p.Phe313=
NR_134480.2:n.1018C>T
NR_134481.2:n.1032C>T
NR_134482.2:n.878C>T
NR_157168.2:n.992C>T
NR_157169.2:n.852C>T
NR_157170.2:n.1018C>T
NR_157171.2:n.852C>T
NR_157172.2:n.878C>T
NR_157173.2:n.1006C>T
NR_157174.2:n.878C>T
NR_157175.2:n.1032C>T
NR_157176.2:n.1172C>T
NR_157177.2:n.1027C>T
NR_157178.2:n.1032C>T