Canonical Allele Identifier: CA1525801692
Community Standard Title: NM_002454.3(MTRR):c.537T= (p.Leu179=)
Gene: MTRR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.7878079T= , CM000667.2:g.7878079T= GRCh38
NC_000005.9:g.7878192T= , CM000667.1:g.7878192T= GRCh37
NC_000005.8:g.7931192T= NCBI36
NG_008856.1:g.13976T=

Transcript Alleles

HGVS Amino-acid Change
NM_002454.3:c.537T= MANE Select NP_002445.2:p.Leu179=
ENST00000440940.7:c.537T= MANE Select ENSP00000402510.2:p.Leu179=
NM_001364440.1:c.537T= NP_001351369.1:p.Leu179=
NM_001364440.2:c.537T= NP_001351369.1:p.Leu179=
NM_001364441.1:c.537T= NP_001351370.1:p.Leu179=
NM_001364441.2:c.537T= NP_001351370.1:p.Leu179=
NM_001364442.1:c.537T= NP_001351371.1:p.Leu179=
NM_001364442.2:c.537T= NP_001351371.1:p.Leu179=
NM_002454.2:c.537T= NP_002445.2:p.Leu179=
NM_024010.2:c.618T= NP_076915.2:p.Leu206=
NM_024010.3:c.537T= NP_076915.3:p.Leu179=
NM_024010.4:c.537T= NP_076915.3:p.Leu179=
NR_134480.1:n.660T=
NR_134480.2:n.616T=
NR_134481.1:n.674T=
NR_134481.2:n.630T=
NR_134482.1:n.520T=
NR_134482.2:n.476T=
NR_157168.1:n.590T=
NR_157168.2:n.590T=
NR_157169.1:n.450T=
NR_157169.2:n.450T=
NR_157170.1:n.476T=
NR_157170.2:n.476T=
NR_157171.1:n.450T=
NR_157171.2:n.450T=
NR_157172.1:n.476T=
NR_157172.2:n.476T=
NR_157173.1:n.604T=
NR_157173.2:n.604T=
NR_157174.1:n.476T=
NR_157174.2:n.476T=
NR_157175.1:n.630T=
NR_157175.2:n.630T=
NR_157176.1:n.630T=
NR_157176.2:n.630T=
NR_157177.1:n.625T=
NR_157177.2:n.625T=
NR_157178.1:n.630T=
NR_157178.2:n.630T=
ENST00000264668.6:c.618T= ENSP00000264668.2:p.Leu206=
ENST00000440940.6:c.537T= ENSP00000402510.2:p.Leu179=
ENST00000510279.5:c.*206T= ENSP00000427200.1:n.*206T=
ENST00000510525.5:c.562T=
ENST00000511461.5:c.450T=
ENST00000513439.5:c.*244T= ENSP00000426710.1:n.*244T=
ENST00000514220.5:c.322T=
ENST00000514369.5:c.*201T= ENSP00000426132.1:n.*201T=
XM_006714474.2:c.618T= XP_006714537.1:p.Leu206=
XM_011514043.1:c.618T= XP_011512345.1:p.Leu206=
XM_011514044.1:c.537T= XP_011512346.1:p.Leu179=
XM_011514045.1:c.618T= XP_011512347.1:p.Leu206=
XM_024446063.1:c.582T= XP_024301831.1:p.Leu194=
XM_024446064.1:c.537T= XP_024301832.1:p.Leu179=
XR_001742071.1:n.640T=
XR_001742072.1:n.640T=
XR_001742074.1:n.640T=
XR_001742075.1:n.640T=
XR_001742076.1:n.640T=
XR_001742077.1:n.640T=
XR_241702.1:n.640T=
XR_241703.1:n.633T=
XR_925614.1:n.640T=
XR_925615.1:n.640T=