Canonical Allele Identifier: CA359159253

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1998855
• ClinVar RCV Id: RCV002814964
• MyVariant Identifiers: chr5:g.7895885A>T (hg19) ; chr5:g.7895772A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7895772A>T , CM000667.2:g.7895772A>T	GRCh38
NC_000005.9:g.7895885A>T , CM000667.1:g.7895885A>T	GRCh37
NC_000005.8:g.7948885A>T	NCBI36
NG_008856.1:g.31669A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.1596A>T MANE Select	ENSP00000402510.2:p.Leu532Phe
ENST00000264668.6:c.1677A>T	ENSP00000264668.2:p.Leu559Phe
ENST00000440940.6:c.1596A>T	ENSP00000402510.2:p.Leu532Phe
ENST00000510525.5:c.1532A>T
ENST00000511461.5:c.1509A>T
ENST00000513439.5:c.*1303A>T	ENSP00000426710.1:n.*1303A>T
NM_002454.2:c.1596A>T	NP_002445.2:p.Leu532Phe
NM_024010.2:c.1677A>T	NP_076915.2:p.Leu559Phe
XM_011514043.1:c.1677A>T	XP_011512345.1:p.Leu559Phe
XM_011514044.1:c.1596A>T	XP_011512346.1:p.Leu532Phe
XR_241702.1:n.1610A>T
XR_241703.1:n.1603A>T
XR_925614.1:n.1722A>T
NM_001364440.1:c.1596A>T	NP_001351369.1:p.Leu532Phe
NM_001364441.1:c.1596A>T	NP_001351370.1:p.Leu532Phe
NM_001364442.1:c.1596A>T	NP_001351371.1:p.Leu532Phe
NM_024010.3:c.1596A>T	NP_076915.3:p.Leu532Phe
NR_134480.1:n.1719A>T
NR_134481.1:n.1644A>T
NR_134482.1:n.1579A>T
NR_157168.1:n.1649A>T
NR_157169.1:n.1509A>T
NR_157170.1:n.1675A>T
NR_157171.1:n.1532A>T
NR_157172.1:n.1446A>T
NR_157173.1:n.1686A>T
NR_157174.1:n.1687A>T
NR_157175.1:n.1841A>T
NR_157176.1:n.2004A>T
NR_157177.1:n.1684A>T
NR_157178.1:n.1712A>T
XM_024446063.1:c.1641A>T	XP_024301831.1:p.Leu547Phe
XM_024446064.1:c.1596A>T	XP_024301832.1:p.Leu532Phe
XR_001742071.1:n.1874A>T
XR_001742072.1:n.1851A>T
XR_001742074.1:n.1610A>T
XR_001742075.1:n.1762A>T
XR_001742076.1:n.1839A>T
XR_001742077.1:n.1862A>T
NM_001364440.2:c.1596A>T	NP_001351369.1:p.Leu532Phe
NM_001364441.2:c.1596A>T	NP_001351370.1:p.Leu532Phe
NM_001364442.2:c.1596A>T	NP_001351371.1:p.Leu532Phe
NM_002454.3:c.1596A>T MANE Select	NP_002445.2:p.Leu532Phe
NM_024010.4:c.1596A>T	NP_076915.3:p.Leu532Phe
NR_134480.2:n.1675A>T
NR_134481.2:n.1600A>T
NR_134482.2:n.1535A>T
NR_157168.2:n.1649A>T
NR_157169.2:n.1509A>T
NR_157170.2:n.1675A>T
NR_157171.2:n.1532A>T
NR_157172.2:n.1446A>T
NR_157173.2:n.1686A>T
NR_157174.2:n.1687A>T
NR_157175.2:n.1841A>T
NR_157176.2:n.2004A>T
NR_157177.2:n.1684A>T
NR_157178.2:n.1712A>T