Canonical Allele Identifier: CA251500

Linked Data

ClinVar Variation Id: 546
ClinVar RCV Id: RCV000000576
dbSNP Id: rs137853188

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106185C>G , CM000673.2:g.72106185C>G GRCh38
NC_000011.9:g.71817231C>G , CM000673.1:g.71817231C>G GRCh37
NC_000011.8:g.71494879C>G NCBI36
NG_021423.1:g.30850C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.234C>G (TOMT) MANE Select ENSP00000494667.1:p.Tyr78Ter
ENST00000541899.2:c.234C>G (TOMT) ENSP00000494667.1:p.Tyr78Ter
ENST00000643715.1:c.438-2420C>G (LRTOMT) ENSP00000496019.1:n.438-2420C>G
ENST00000646163.1:c.*52C>G (LRTOMT) ENSP00000494749.1:n.*52C>G
ENST00000307198.11:c.333C>G (LRRC51) ENSP00000305742.7:p.Tyr111Ter
ENST00000419228.2:c.213C>G (LRRC51) ENSP00000392233.2:p.Tyr71Ter
ENST00000427369.6:c.*52C>G (LRRC51) ENSP00000409403.2:n.*52C>G
ENST00000435085.5:c.333C>G (LRRC51) ENSP00000409789.1:p.Tyr111Ter
ENST00000439209.5:c.438-2420C>G (LRRC51) ENSP00000395139.1:n.438-2420C>G
ENST00000541899.1:n.391C>G (LRRC51)
ENST00000544409.5:c.*52C>G (LRRC51) ENSP00000440969.1:n.*52C>G
NM_001145308.4:c.333C>G (LRTOMT) NP_001138780.1:p.Tyr111Ter
NM_001145309.3:c.333C>G (LRTOMT) NP_001138781.1:p.Tyr111Ter
NM_001145310.3:c.213C>G (LRTOMT) NP_001138782.1:p.Tyr71Ter
XM_011544849.1:c.558C>G (LRTOMT) XP_011543151.1:p.Tyr186Ter
XM_024448401.1:c.558C>G (LRTOMT) XP_024304169.1:p.Tyr186Ter
NM_001145308.5:c.333C>G (LRTOMT) NP_001138780.1:p.Tyr111Ter
NM_001145309.4:c.333C>G (LRTOMT) NP_001138781.1:p.Tyr111Ter
NM_001145310.4:c.213C>G (LRTOMT) NP_001138782.1:p.Tyr71Ter
NM_001393500.1:c.234C>G (TOMT) NP_001380429.1:p.Tyr78Ter
NM_001393500.2:c.234C>G (TOMT) MANE Select NP_001380429.1:p.Tyr78Ter