Canonical Allele Identifier: CA359159220

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7895869C>T (hg19) ; chr5:g.7895756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895756C>T , CM000667.2:g.7895756C>T	GRCh38
NC_000005.9:g.7895869C>T , CM000667.1:g.7895869C>T	GRCh37
NC_000005.8:g.7948869C>T	NCBI36
NG_008856.1:g.31653C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1580C>T MANE Select	ENSP00000402510.2:p.Thr527Ile
ENST00000264668.6:c.1661C>T	ENSP00000264668.2:p.Thr554Ile
ENST00000440940.6:c.1580C>T	ENSP00000402510.2:p.Thr527Ile
ENST00000510525.5:c.1516C>T
ENST00000511461.5:c.1493C>T
ENST00000513439.5:c.*1287C>T	ENSP00000426710.1:n.*1287C>T
NM_002454.2:c.1580C>T	NP_002445.2:p.Thr527Ile
NM_024010.2:c.1661C>T	NP_076915.2:p.Thr554Ile
XM_011514043.1:c.1661C>T	XP_011512345.1:p.Thr554Ile
XM_011514044.1:c.1580C>T	XP_011512346.1:p.Thr527Ile
XR_241702.1:n.1594C>T
XR_241703.1:n.1587C>T
XR_925614.1:n.1706C>T
NM_001364440.1:c.1580C>T	NP_001351369.1:p.Thr527Ile
NM_001364441.1:c.1580C>T	NP_001351370.1:p.Thr527Ile
NM_001364442.1:c.1580C>T	NP_001351371.1:p.Thr527Ile
NM_024010.3:c.1580C>T	NP_076915.3:p.Thr527Ile
NR_134480.1:n.1703C>T
NR_134481.1:n.1628C>T
NR_134482.1:n.1563C>T
NR_157168.1:n.1633C>T
NR_157169.1:n.1493C>T
NR_157170.1:n.1659C>T
NR_157171.1:n.1516C>T
NR_157172.1:n.1430C>T
NR_157173.1:n.1670C>T
NR_157174.1:n.1671C>T
NR_157175.1:n.1825C>T
NR_157176.1:n.1988C>T
NR_157177.1:n.1668C>T
NR_157178.1:n.1696C>T
XM_024446063.1:c.1625C>T	XP_024301831.1:p.Thr542Ile
XM_024446064.1:c.1580C>T	XP_024301832.1:p.Thr527Ile
XR_001742071.1:n.1858C>T
XR_001742072.1:n.1835C>T
XR_001742074.1:n.1594C>T
XR_001742075.1:n.1746C>T
XR_001742076.1:n.1823C>T
XR_001742077.1:n.1846C>T
NM_001364440.2:c.1580C>T	NP_001351369.1:p.Thr527Ile
NM_001364441.2:c.1580C>T	NP_001351370.1:p.Thr527Ile
NM_001364442.2:c.1580C>T	NP_001351371.1:p.Thr527Ile
NM_002454.3:c.1580C>T MANE Select	NP_002445.2:p.Thr527Ile
NM_024010.4:c.1580C>T	NP_076915.3:p.Thr527Ile
NR_134480.2:n.1659C>T
NR_134481.2:n.1584C>T
NR_134482.2:n.1519C>T
NR_157168.2:n.1633C>T
NR_157169.2:n.1493C>T
NR_157170.2:n.1659C>T
NR_157171.2:n.1516C>T
NR_157172.2:n.1430C>T
NR_157173.2:n.1670C>T
NR_157174.2:n.1671C>T
NR_157175.2:n.1825C>T
NR_157176.2:n.1988C>T
NR_157177.2:n.1668C>T
NR_157178.2:n.1696C>T