Canonical Allele Identifier: CA359158738

Gene: MTRR

Linked Data

• dbSNP Id: rs1407994766
• gnomAD v2: 5-7891512-C-A
• gnomAD v4: 5-7891399-C-A
• MyVariant Identifiers: chr5:g.7891512C>A (hg19) ; chr5:g.7891399C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7891399C>A , CM000667.2:g.7891399C>A	GRCh38
NC_000005.9:g.7891512C>A , CM000667.1:g.7891512C>A	GRCh37
NC_000005.8:g.7944512C>A	NCBI36
NG_008856.1:g.27296C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1355C>A MANE Select	ENSP00000402510.2:p.Pro452Gln
ENST00000264668.6:c.1436C>A	ENSP00000264668.2:p.Pro479Gln
ENST00000440940.6:c.1355C>A	ENSP00000402510.2:p.Pro452Gln
ENST00000507202.1:n.31C>A
ENST00000507414.1:n.95C>A
ENST00000510525.5:c.1291C>A
ENST00000511461.5:c.1268C>A
ENST00000512311.5:n.334C>A
ENST00000513439.5:c.*1062C>A	ENSP00000426710.1:n.*1062C>A
NM_002454.2:c.1355C>A	NP_002445.2:p.Pro452Gln
NM_024010.2:c.1436C>A	NP_076915.2:p.Pro479Gln
XM_011514043.1:c.1436C>A	XP_011512345.1:p.Pro479Gln
XM_011514044.1:c.1355C>A	XP_011512346.1:p.Pro452Gln
XR_241702.1:n.1369C>A
XR_241703.1:n.1362C>A
XR_925614.1:n.1481C>A
XR_925615.1:n.1633C>A
NM_001364440.1:c.1355C>A	NP_001351369.1:p.Pro452Gln
NM_001364441.1:c.1355C>A	NP_001351370.1:p.Pro452Gln
NM_001364442.1:c.1355C>A	NP_001351371.1:p.Pro452Gln
NM_024010.3:c.1355C>A	NP_076915.3:p.Pro452Gln
NR_134480.1:n.1478C>A
NR_134481.1:n.1403C>A
NR_134482.1:n.1338C>A
NR_157168.1:n.1408C>A
NR_157169.1:n.1268C>A
NR_157170.1:n.1434C>A
NR_157171.1:n.1291C>A
NR_157172.1:n.1205C>A
NR_157173.1:n.1445C>A
NR_157174.1:n.1446C>A
NR_157175.1:n.1600C>A
NR_157176.1:n.1763C>A
NR_157177.1:n.1443C>A
NR_157178.1:n.1471C>A
XM_024446063.1:c.1400C>A	XP_024301831.1:p.Pro467Gln
XM_024446064.1:c.1355C>A	XP_024301832.1:p.Pro452Gln
XR_001742071.1:n.1633C>A
XR_001742072.1:n.1610C>A
XR_001742074.1:n.1369C>A
XR_001742075.1:n.1521C>A
XR_001742076.1:n.1598C>A
XR_001742077.1:n.1621C>A
NM_001364440.2:c.1355C>A	NP_001351369.1:p.Pro452Gln
NM_001364441.2:c.1355C>A	NP_001351370.1:p.Pro452Gln
NM_001364442.2:c.1355C>A	NP_001351371.1:p.Pro452Gln
NM_002454.3:c.1355C>A MANE Select	NP_002445.2:p.Pro452Gln
NM_024010.4:c.1355C>A	NP_076915.3:p.Pro452Gln
NR_134480.2:n.1434C>A
NR_134481.2:n.1359C>A
NR_134482.2:n.1294C>A
NR_157168.2:n.1408C>A
NR_157169.2:n.1268C>A
NR_157170.2:n.1434C>A
NR_157171.2:n.1291C>A
NR_157172.2:n.1205C>A
NR_157173.2:n.1445C>A
NR_157174.2:n.1446C>A
NR_157175.2:n.1600C>A
NR_157176.2:n.1763C>A
NR_157177.2:n.1443C>A
NR_157178.2:n.1471C>A