Canonical Allele Identifier: CA251497

Linked Data

ClinVar Variation Id: 544
ClinVar RCV Id: RCV000000574
dbSNP Id: rs137853186

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106165T>C , CM000673.2:g.72106165T>C GRCh38
NC_000011.9:g.71817211T>C , CM000673.1:g.71817211T>C GRCh37
NC_000011.8:g.71494859T>C NCBI36
NG_021423.1:g.30830T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000541899.3:c.214T>C (TOMT) MANE Select ENSP00000494667.1:p.Trp72Arg
ENST00000541899.2:c.214T>C (TOMT) ENSP00000494667.1:p.Trp72Arg
ENST00000643715.1:c.438-2440T>C (LRTOMT) ENSP00000496019.1:n.438-2440T>C
ENST00000646163.1:c.*32T>C (LRTOMT) ENSP00000494749.1:n.*32T>C
ENST00000307198.11:c.313T>C (LRRC51) ENSP00000305742.7:p.Trp105Arg
ENST00000419228.2:c.193T>C (LRRC51) ENSP00000392233.2:p.Trp65Arg
ENST00000427369.6:c.*32T>C (LRRC51) ENSP00000409403.2:n.*32T>C
ENST00000435085.5:c.313T>C (LRRC51) ENSP00000409789.1:p.Trp105Arg
ENST00000439209.5:c.438-2440T>C (LRRC51) ENSP00000395139.1:n.438-2440T>C
ENST00000541899.1:n.371T>C (LRRC51)
ENST00000544409.5:c.*32T>C (LRRC51) ENSP00000440969.1:n.*32T>C
NM_001145308.4:c.313T>C (LRTOMT) NP_001138780.1:p.Trp105Arg
NM_001145309.3:c.313T>C (LRTOMT) NP_001138781.1:p.Trp105Arg
NM_001145310.3:c.193T>C (LRTOMT) NP_001138782.1:p.Trp65Arg
XM_011544849.1:c.538T>C (LRTOMT) XP_011543151.1:p.Trp180Arg
XM_024448401.1:c.538T>C (LRTOMT) XP_024304169.1:p.Trp180Arg
NM_001145308.5:c.313T>C (LRTOMT) NP_001138780.1:p.Trp105Arg
NM_001145309.4:c.313T>C (LRTOMT) NP_001138781.1:p.Trp105Arg
NM_001145310.4:c.193T>C (LRTOMT) NP_001138782.1:p.Trp65Arg
NM_001393500.1:c.214T>C (TOMT) NP_001380429.1:p.Trp72Arg
NM_001393500.2:c.214T>C (TOMT) MANE Select NP_001380429.1:p.Trp72Arg