Canonical Allele Identifier: CA443129488

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1671005
• ClinVar RCV Id: RCV002196376
• dbSNP Id: rs2126807805
• MyVariant Identifiers: chr5:g.7895879C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895766C>T , CM000667.2:g.7895766C>T	GRCh38
NC_000005.9:g.7895879C>T , CM000667.1:g.7895879C>T	GRCh37
NC_000005.8:g.7948879C>T	NCBI36
NG_008856.1:g.31663C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1590C>T MANE Select	ENSP00000402510.2:p.Phe530=
ENST00000264668.6:c.1671C>T	ENSP00000264668.2:p.Phe557=
ENST00000440940.6:c.1590C>T	ENSP00000402510.2:p.Phe530=
ENST00000510525.5:c.1526C>T
ENST00000511461.5:c.1503C>T
ENST00000513439.5:c.*1297C>T	ENSP00000426710.1:n.*1297C>T
NM_002454.2:c.1590C>T	NP_002445.2:p.Phe530=
NM_024010.2:c.1671C>T	NP_076915.2:p.Phe557=
XM_011514043.1:c.1671C>T	XP_011512345.1:p.Phe557=
XM_011514044.1:c.1590C>T	XP_011512346.1:p.Phe530=
XR_241702.1:n.1604C>T
XR_241703.1:n.1597C>T
XR_925614.1:n.1716C>T
NM_001364440.1:c.1590C>T	NP_001351369.1:p.Phe530=
NM_001364441.1:c.1590C>T	NP_001351370.1:p.Phe530=
NM_001364442.1:c.1590C>T	NP_001351371.1:p.Phe530=
NM_024010.3:c.1590C>T	NP_076915.3:p.Phe530=
NR_134480.1:n.1713C>T
NR_134481.1:n.1638C>T
NR_134482.1:n.1573C>T
NR_157168.1:n.1643C>T
NR_157169.1:n.1503C>T
NR_157170.1:n.1669C>T
NR_157171.1:n.1526C>T
NR_157172.1:n.1440C>T
NR_157173.1:n.1680C>T
NR_157174.1:n.1681C>T
NR_157175.1:n.1835C>T
NR_157176.1:n.1998C>T
NR_157177.1:n.1678C>T
NR_157178.1:n.1706C>T
XM_024446063.1:c.1635C>T	XP_024301831.1:p.Phe545=
XM_024446064.1:c.1590C>T	XP_024301832.1:p.Phe530=
XR_001742071.1:n.1868C>T
XR_001742072.1:n.1845C>T
XR_001742074.1:n.1604C>T
XR_001742075.1:n.1756C>T
XR_001742076.1:n.1833C>T
XR_001742077.1:n.1856C>T
NM_001364440.2:c.1590C>T	NP_001351369.1:p.Phe530=
NM_001364441.2:c.1590C>T	NP_001351370.1:p.Phe530=
NM_001364442.2:c.1590C>T	NP_001351371.1:p.Phe530=
NM_002454.3:c.1590C>T MANE Select	NP_002445.2:p.Phe530=
NM_024010.4:c.1590C>T	NP_076915.3:p.Phe530=
NR_134480.2:n.1669C>T
NR_134481.2:n.1594C>T
NR_134482.2:n.1529C>T
NR_157168.2:n.1643C>T
NR_157169.2:n.1503C>T
NR_157170.2:n.1669C>T
NR_157171.2:n.1526C>T
NR_157172.2:n.1440C>T
NR_157173.2:n.1680C>T
NR_157174.2:n.1681C>T
NR_157175.2:n.1835C>T
NR_157176.2:n.1998C>T
NR_157177.2:n.1678C>T
NR_157178.2:n.1706C>T