Canonical Allele Identifier: CA359159234

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7895877T>C (hg19) ; chr5:g.7895764T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895764T>C , CM000667.2:g.7895764T>C	GRCh38
NC_000005.9:g.7895877T>C , CM000667.1:g.7895877T>C	GRCh37
NC_000005.8:g.7948877T>C	NCBI36
NG_008856.1:g.31661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1588T>C MANE Select	ENSP00000402510.2:p.Phe530Leu
ENST00000264668.6:c.1669T>C	ENSP00000264668.2:p.Phe557Leu
ENST00000440940.6:c.1588T>C	ENSP00000402510.2:p.Phe530Leu
ENST00000510525.5:c.1524T>C
ENST00000511461.5:c.1501T>C
ENST00000513439.5:c.*1295T>C	ENSP00000426710.1:n.*1295T>C
NM_002454.2:c.1588T>C	NP_002445.2:p.Phe530Leu
NM_024010.2:c.1669T>C	NP_076915.2:p.Phe557Leu
XM_011514043.1:c.1669T>C	XP_011512345.1:p.Phe557Leu
XM_011514044.1:c.1588T>C	XP_011512346.1:p.Phe530Leu
XR_241702.1:n.1602T>C
XR_241703.1:n.1595T>C
XR_925614.1:n.1714T>C
NM_001364440.1:c.1588T>C	NP_001351369.1:p.Phe530Leu
NM_001364441.1:c.1588T>C	NP_001351370.1:p.Phe530Leu
NM_001364442.1:c.1588T>C	NP_001351371.1:p.Phe530Leu
NM_024010.3:c.1588T>C	NP_076915.3:p.Phe530Leu
NR_134480.1:n.1711T>C
NR_134481.1:n.1636T>C
NR_134482.1:n.1571T>C
NR_157168.1:n.1641T>C
NR_157169.1:n.1501T>C
NR_157170.1:n.1667T>C
NR_157171.1:n.1524T>C
NR_157172.1:n.1438T>C
NR_157173.1:n.1678T>C
NR_157174.1:n.1679T>C
NR_157175.1:n.1833T>C
NR_157176.1:n.1996T>C
NR_157177.1:n.1676T>C
NR_157178.1:n.1704T>C
XM_024446063.1:c.1633T>C	XP_024301831.1:p.Phe545Leu
XM_024446064.1:c.1588T>C	XP_024301832.1:p.Phe530Leu
XR_001742071.1:n.1866T>C
XR_001742072.1:n.1843T>C
XR_001742074.1:n.1602T>C
XR_001742075.1:n.1754T>C
XR_001742076.1:n.1831T>C
XR_001742077.1:n.1854T>C
NM_001364440.2:c.1588T>C	NP_001351369.1:p.Phe530Leu
NM_001364441.2:c.1588T>C	NP_001351370.1:p.Phe530Leu
NM_001364442.2:c.1588T>C	NP_001351371.1:p.Phe530Leu
NM_002454.3:c.1588T>C MANE Select	NP_002445.2:p.Phe530Leu
NM_024010.4:c.1588T>C	NP_076915.3:p.Phe530Leu
NR_134480.2:n.1667T>C
NR_134481.2:n.1592T>C
NR_134482.2:n.1527T>C
NR_157168.2:n.1641T>C
NR_157169.2:n.1501T>C
NR_157170.2:n.1667T>C
NR_157171.2:n.1524T>C
NR_157172.2:n.1438T>C
NR_157173.2:n.1678T>C
NR_157174.2:n.1679T>C
NR_157175.2:n.1833T>C
NR_157176.2:n.1996T>C
NR_157177.2:n.1676T>C
NR_157178.2:n.1704T>C