Canonical Allele Identifier: CA359156747

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7878098C>T (hg19) ; chr5:g.7877985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7877985C>T , CM000667.2:g.7877985C>T	GRCh38
NC_000005.9:g.7878098C>T , CM000667.1:g.7878098C>T	GRCh37
NC_000005.8:g.7931098C>T	NCBI36
NG_008856.1:g.13882C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.443C>T MANE Select	ENSP00000402510.2:p.Pro148Leu
ENST00000264668.6:c.524C>T	ENSP00000264668.2:p.Pro175Leu
ENST00000440940.6:c.443C>T	ENSP00000402510.2:p.Pro148Leu
ENST00000502509.5:n.658C>T
ENST00000502550.5:c.443C>T	ENSP00000424599.1:p.Pro148Leu
ENST00000508047.5:c.496C>T
ENST00000508890.1:n.256C>T
ENST00000510279.5:c.*112C>T	ENSP00000427200.1:n.*112C>T
ENST00000510525.5:c.468C>T
ENST00000511461.5:c.356C>T
ENST00000513439.5:c.*150C>T	ENSP00000426710.1:n.*150C>T
ENST00000514220.5:c.228C>T
ENST00000514369.5:c.*107C>T	ENSP00000426132.1:n.*107C>T
NM_002454.2:c.443C>T	NP_002445.2:p.Pro148Leu
NM_024010.2:c.524C>T	NP_076915.2:p.Pro175Leu
XM_006714474.2:c.524C>T	XP_006714537.1:p.Pro175Leu
XM_011514043.1:c.524C>T	XP_011512345.1:p.Pro175Leu
XM_011514044.1:c.443C>T	XP_011512346.1:p.Pro148Leu
XM_011514045.1:c.524C>T	XP_011512347.1:p.Pro175Leu
XR_241702.1:n.546C>T
XR_241703.1:n.539C>T
XR_925614.1:n.546C>T
XR_925615.1:n.546C>T
NM_001364440.1:c.443C>T	NP_001351369.1:p.Pro148Leu
NM_001364441.1:c.443C>T	NP_001351370.1:p.Pro148Leu
NM_001364442.1:c.443C>T	NP_001351371.1:p.Pro148Leu
NM_024010.3:c.443C>T	NP_076915.3:p.Pro148Leu
NR_134480.1:n.566C>T
NR_134481.1:n.580C>T
NR_134482.1:n.426C>T
NR_157168.1:n.496C>T
NR_157169.1:n.356C>T
NR_157170.1:n.382C>T
NR_157171.1:n.356C>T
NR_157172.1:n.382C>T
NR_157173.1:n.510C>T
NR_157174.1:n.382C>T
NR_157175.1:n.536C>T
NR_157176.1:n.536C>T
NR_157177.1:n.531C>T
NR_157178.1:n.536C>T
XM_024446063.1:c.488C>T	XP_024301831.1:p.Pro163Leu
XM_024446064.1:c.443C>T	XP_024301832.1:p.Pro148Leu
XR_001742071.1:n.546C>T
XR_001742072.1:n.546C>T
XR_001742074.1:n.546C>T
XR_001742075.1:n.546C>T
XR_001742076.1:n.546C>T
XR_001742077.1:n.546C>T
NM_001364440.2:c.443C>T	NP_001351369.1:p.Pro148Leu
NM_001364441.2:c.443C>T	NP_001351370.1:p.Pro148Leu
NM_001364442.2:c.443C>T	NP_001351371.1:p.Pro148Leu
NM_002454.3:c.443C>T MANE Select	NP_002445.2:p.Pro148Leu
NM_024010.4:c.443C>T	NP_076915.3:p.Pro148Leu
NR_134480.2:n.522C>T
NR_134481.2:n.536C>T
NR_134482.2:n.382C>T
NR_157168.2:n.496C>T
NR_157169.2:n.356C>T
NR_157170.2:n.382C>T
NR_157171.2:n.356C>T
NR_157172.2:n.382C>T
NR_157173.2:n.510C>T
NR_157174.2:n.382C>T
NR_157175.2:n.536C>T
NR_157176.2:n.536C>T
NR_157177.2:n.531C>T
NR_157178.2:n.536C>T