Canonical Allele Identifier: CA359156873

Gene: MTRR

Linked Data

• dbSNP Id: rs1156730016
• gnomAD v2: 5-7878157-C-T
• gnomAD v3: 5-7878044-C-T
• gnomAD v4: 5-7878044-C-T
• COSMIC: COSM1695367
• MyVariant Identifiers: chr5:g.7878157C>T (hg19) ; chr5:g.7878044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.7878044C>T , CM000667.2:g.7878044C>T	GRCh38
NC_000005.9:g.7878157C>T , CM000667.1:g.7878157C>T	GRCh37
NC_000005.8:g.7931157C>T	NCBI36
NG_008856.1:g.13941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000440940.7:c.502C>T MANE Select	ENSP00000402510.2:p.Pro168Ser
ENST00000264668.6:c.583C>T	ENSP00000264668.2:p.Pro195Ser
ENST00000440940.6:c.502C>T	ENSP00000402510.2:p.Pro168Ser
ENST00000508890.1:n.315C>T
ENST00000510279.5:c.*171C>T	ENSP00000427200.1:n.*171C>T
ENST00000510525.5:c.527C>T
ENST00000511461.5:c.415C>T
ENST00000513439.5:c.*209C>T	ENSP00000426710.1:n.*209C>T
ENST00000514220.5:c.287C>T
ENST00000514369.5:c.*166C>T	ENSP00000426132.1:n.*166C>T
NM_002454.2:c.502C>T	NP_002445.2:p.Pro168Ser
NM_024010.2:c.583C>T	NP_076915.2:p.Pro195Ser
XM_006714474.2:c.583C>T	XP_006714537.1:p.Pro195Ser
XM_011514043.1:c.583C>T	XP_011512345.1:p.Pro195Ser
XM_011514044.1:c.502C>T	XP_011512346.1:p.Pro168Ser
XM_011514045.1:c.583C>T	XP_011512347.1:p.Pro195Ser
XR_241702.1:n.605C>T
XR_241703.1:n.598C>T
XR_925614.1:n.605C>T
XR_925615.1:n.605C>T
NM_001364440.1:c.502C>T	NP_001351369.1:p.Pro168Ser
NM_001364441.1:c.502C>T	NP_001351370.1:p.Pro168Ser
NM_001364442.1:c.502C>T	NP_001351371.1:p.Pro168Ser
NM_024010.3:c.502C>T	NP_076915.3:p.Pro168Ser
NR_134480.1:n.625C>T
NR_134481.1:n.639C>T
NR_134482.1:n.485C>T
NR_157168.1:n.555C>T
NR_157169.1:n.415C>T
NR_157170.1:n.441C>T
NR_157171.1:n.415C>T
NR_157172.1:n.441C>T
NR_157173.1:n.569C>T
NR_157174.1:n.441C>T
NR_157175.1:n.595C>T
NR_157176.1:n.595C>T
NR_157177.1:n.590C>T
NR_157178.1:n.595C>T
XM_024446063.1:c.547C>T	XP_024301831.1:p.Pro183Ser
XM_024446064.1:c.502C>T	XP_024301832.1:p.Pro168Ser
XR_001742071.1:n.605C>T
XR_001742072.1:n.605C>T
XR_001742074.1:n.605C>T
XR_001742075.1:n.605C>T
XR_001742076.1:n.605C>T
XR_001742077.1:n.605C>T
NM_001364440.2:c.502C>T	NP_001351369.1:p.Pro168Ser
NM_001364441.2:c.502C>T	NP_001351370.1:p.Pro168Ser
NM_001364442.2:c.502C>T	NP_001351371.1:p.Pro168Ser
NM_002454.3:c.502C>T MANE Select	NP_002445.2:p.Pro168Ser
NM_024010.4:c.502C>T	NP_076915.3:p.Pro168Ser
NR_134480.2:n.581C>T
NR_134481.2:n.595C>T
NR_134482.2:n.441C>T
NR_157168.2:n.555C>T
NR_157169.2:n.415C>T
NR_157170.2:n.441C>T
NR_157171.2:n.415C>T
NR_157172.2:n.441C>T
NR_157173.2:n.569C>T
NR_157174.2:n.441C>T
NR_157175.2:n.595C>T
NR_157176.2:n.595C>T
NR_157177.2:n.590C>T
NR_157178.2:n.595C>T