Canonical Allele Identifier: CA359159254

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7895886C>A (hg19) ; chr5:g.7895773C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895773C>A , CM000667.2:g.7895773C>A	GRCh38
NC_000005.9:g.7895886C>A , CM000667.1:g.7895886C>A	GRCh37
NC_000005.8:g.7948886C>A	NCBI36
NG_008856.1:g.31670C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1597C>A MANE Select	ENSP00000402510.2:p.Pro533Thr
ENST00000264668.6:c.1678C>A	ENSP00000264668.2:p.Pro560Thr
ENST00000440940.6:c.1597C>A	ENSP00000402510.2:p.Pro533Thr
ENST00000510525.5:c.1533C>A
ENST00000511461.5:c.1510C>A
ENST00000513439.5:c.*1304C>A	ENSP00000426710.1:n.*1304C>A
NM_002454.2:c.1597C>A	NP_002445.2:p.Pro533Thr
NM_024010.2:c.1678C>A	NP_076915.2:p.Pro560Thr
XM_011514043.1:c.1678C>A	XP_011512345.1:p.Pro560Thr
XM_011514044.1:c.1597C>A	XP_011512346.1:p.Pro533Thr
XR_241702.1:n.1611C>A
XR_241703.1:n.1604C>A
XR_925614.1:n.1723C>A
NM_001364440.1:c.1597C>A	NP_001351369.1:p.Pro533Thr
NM_001364441.1:c.1597C>A	NP_001351370.1:p.Pro533Thr
NM_001364442.1:c.1597C>A	NP_001351371.1:p.Pro533Thr
NM_024010.3:c.1597C>A	NP_076915.3:p.Pro533Thr
NR_134480.1:n.1720C>A
NR_134481.1:n.1645C>A
NR_134482.1:n.1580C>A
NR_157168.1:n.1650C>A
NR_157169.1:n.1510C>A
NR_157170.1:n.1676C>A
NR_157171.1:n.1533C>A
NR_157172.1:n.1447C>A
NR_157173.1:n.1687C>A
NR_157174.1:n.1688C>A
NR_157175.1:n.1842C>A
NR_157176.1:n.2005C>A
NR_157177.1:n.1685C>A
NR_157178.1:n.1713C>A
XM_024446063.1:c.1642C>A	XP_024301831.1:p.Pro548Thr
XM_024446064.1:c.1597C>A	XP_024301832.1:p.Pro533Thr
XR_001742071.1:n.1875C>A
XR_001742072.1:n.1852C>A
XR_001742074.1:n.1611C>A
XR_001742075.1:n.1763C>A
XR_001742076.1:n.1840C>A
XR_001742077.1:n.1863C>A
NM_001364440.2:c.1597C>A	NP_001351369.1:p.Pro533Thr
NM_001364441.2:c.1597C>A	NP_001351370.1:p.Pro533Thr
NM_001364442.2:c.1597C>A	NP_001351371.1:p.Pro533Thr
NM_002454.3:c.1597C>A MANE Select	NP_002445.2:p.Pro533Thr
NM_024010.4:c.1597C>A	NP_076915.3:p.Pro533Thr
NR_134480.2:n.1676C>A
NR_134481.2:n.1601C>A
NR_134482.2:n.1536C>A
NR_157168.2:n.1650C>A
NR_157169.2:n.1510C>A
NR_157170.2:n.1676C>A
NR_157171.2:n.1533C>A
NR_157172.2:n.1447C>A
NR_157173.2:n.1687C>A
NR_157174.2:n.1688C>A
NR_157175.2:n.1842C>A
NR_157176.2:n.2005C>A
NR_157177.2:n.1685C>A
NR_157178.2:n.1713C>A