Canonical Allele Identifier: CA359159696

Gene: MTRR

Linked Data

• MyVariant Identifiers: chr5:g.7897194T>G (hg19) ; chr5:g.7897081T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7897081T>G , CM000667.2:g.7897081T>G	GRCh38
NC_000005.9:g.7897194T>G , CM000667.1:g.7897194T>G	GRCh37
NC_000005.8:g.7950194T>G	NCBI36
NG_008856.1:g.32978T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1786T>G MANE Select	ENSP00000402510.2:p.Phe596Val
ENST00000264668.6:c.1867T>G	ENSP00000264668.2:p.Phe623Val
ENST00000440940.6:c.1786T>G	ENSP00000402510.2:p.Phe596Val
ENST00000508354.1:n.537T>G
ENST00000510525.5:c.1722T>G
ENST00000511461.5:c.1699T>G
ENST00000513439.5:c.*1493T>G	ENSP00000426710.1:n.*1493T>G
NM_002454.2:c.1786T>G	NP_002445.2:p.Phe596Val
NM_024010.2:c.1867T>G	NP_076915.2:p.Phe623Val
XM_011514043.1:c.1867T>G	XP_011512345.1:p.Phe623Val
XM_011514044.1:c.1786T>G	XP_011512346.1:p.Phe596Val
XR_241703.1:n.1793T>G
XR_925614.1:n.1912T>G
NM_001364440.1:c.1786T>G	NP_001351369.1:p.Phe596Val
NM_001364441.1:c.1786T>G	NP_001351370.1:p.Phe596Val
NM_001364442.1:c.1786T>G	NP_001351371.1:p.Phe596Val
NM_024010.3:c.1786T>G	NP_076915.3:p.Phe596Val
NR_134480.1:n.1909T>G
NR_134481.1:n.1834T>G
NR_134482.1:n.1769T>G
NR_157168.1:n.1839T>G
NR_157169.1:n.1699T>G
NR_157170.1:n.1865T>G
NR_157171.1:n.1722T>G
NR_157172.1:n.1636T>G
NR_157173.1:n.1876T>G
NR_157174.1:n.1877T>G
NR_157175.1:n.2031T>G
NR_157176.1:n.2194T>G
NR_157177.1:n.1874T>G
NR_157178.1:n.1902T>G
XM_024446063.1:c.1831T>G	XP_024301831.1:p.Phe611Val
XM_024446064.1:c.1786T>G	XP_024301832.1:p.Phe596Val
XR_001742071.1:n.2064T>G
XR_001742072.1:n.2041T>G
XR_001742074.1:n.1800T>G
XR_001742075.1:n.1952T>G
XR_001742076.1:n.2029T>G
XR_001742077.1:n.2052T>G
NM_001364440.2:c.1786T>G	NP_001351369.1:p.Phe596Val
NM_001364441.2:c.1786T>G	NP_001351370.1:p.Phe596Val
NM_001364442.2:c.1786T>G	NP_001351371.1:p.Phe596Val
NM_002454.3:c.1786T>G MANE Select	NP_002445.2:p.Phe596Val
NM_024010.4:c.1786T>G	NP_076915.3:p.Phe596Val
NR_134480.2:n.1865T>G
NR_134481.2:n.1790T>G
NR_134482.2:n.1725T>G
NR_157168.2:n.1839T>G
NR_157169.2:n.1699T>G
NR_157170.2:n.1865T>G
NR_157171.2:n.1722T>G
NR_157172.2:n.1636T>G
NR_157173.2:n.1876T>G
NR_157174.2:n.1877T>G
NR_157175.2:n.2031T>G
NR_157176.2:n.2194T>G
NR_157177.2:n.1874T>G
NR_157178.2:n.1902T>G