Canonical Allele Identifier: CA443130009

Gene: MTRR

Linked Data

• ClinVar Variation Id: 1908375
• ClinVar RCV Id: RCV002596629
• dbSNP Id: rs1274767779
• gnomAD v2: 5-7897196-C-T
• gnomAD v4: 5-7897083-C-T
• MyVariant Identifiers: chr5:g.7897196C>T (hg19) ; chr5:g.7897083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7897083C>T , CM000667.2:g.7897083C>T	GRCh38
NC_000005.9:g.7897196C>T , CM000667.1:g.7897196C>T	GRCh37
NC_000005.8:g.7950196C>T	NCBI36
NG_008856.1:g.32980C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000440940.7:c.1788C>T MANE Select	ENSP00000402510.2:p.Phe596=
ENST00000264668.6:c.1869C>T	ENSP00000264668.2:p.Phe623=
ENST00000440940.6:c.1788C>T	ENSP00000402510.2:p.Phe596=
ENST00000508354.1:n.539C>T
ENST00000510525.5:c.1724C>T
ENST00000511461.5:c.1701C>T
ENST00000513439.5:c.*1495C>T	ENSP00000426710.1:n.*1495C>T
NM_002454.2:c.1788C>T	NP_002445.2:p.Phe596=
NM_024010.2:c.1869C>T	NP_076915.2:p.Phe623=
XM_011514043.1:c.1869C>T	XP_011512345.1:p.Phe623=
XM_011514044.1:c.1788C>T	XP_011512346.1:p.Phe596=
XR_241703.1:n.1795C>T
XR_925614.1:n.1914C>T
NM_001364440.1:c.1788C>T	NP_001351369.1:p.Phe596=
NM_001364441.1:c.1788C>T	NP_001351370.1:p.Phe596=
NM_001364442.1:c.1788C>T	NP_001351371.1:p.Phe596=
NM_024010.3:c.1788C>T	NP_076915.3:p.Phe596=
NR_134480.1:n.1911C>T
NR_134481.1:n.1836C>T
NR_134482.1:n.1771C>T
NR_157168.1:n.1841C>T
NR_157169.1:n.1701C>T
NR_157170.1:n.1867C>T
NR_157171.1:n.1724C>T
NR_157172.1:n.1638C>T
NR_157173.1:n.1878C>T
NR_157174.1:n.1879C>T
NR_157175.1:n.2033C>T
NR_157176.1:n.2196C>T
NR_157177.1:n.1876C>T
NR_157178.1:n.1904C>T
XM_024446063.1:c.1833C>T	XP_024301831.1:p.Phe611=
XM_024446064.1:c.1788C>T	XP_024301832.1:p.Phe596=
XR_001742071.1:n.2066C>T
XR_001742072.1:n.2043C>T
XR_001742074.1:n.1802C>T
XR_001742075.1:n.1954C>T
XR_001742076.1:n.2031C>T
XR_001742077.1:n.2054C>T
NM_001364440.2:c.1788C>T	NP_001351369.1:p.Phe596=
NM_001364441.2:c.1788C>T	NP_001351370.1:p.Phe596=
NM_001364442.2:c.1788C>T	NP_001351371.1:p.Phe596=
NM_002454.3:c.1788C>T MANE Select	NP_002445.2:p.Phe596=
NM_024010.4:c.1788C>T	NP_076915.3:p.Phe596=
NR_134480.2:n.1867C>T
NR_134481.2:n.1792C>T
NR_134482.2:n.1727C>T
NR_157168.2:n.1841C>T
NR_157169.2:n.1701C>T
NR_157170.2:n.1867C>T
NR_157171.2:n.1724C>T
NR_157172.2:n.1638C>T
NR_157173.2:n.1878C>T
NR_157174.2:n.1879C>T
NR_157175.2:n.2033C>T
NR_157176.2:n.2196C>T
NR_157177.2:n.1876C>T
NR_157178.2:n.1904C>T