Canonical Allele Identifier: CA251495

Linked Data

ClinVar Variation Id: 543
dbSNP Id: rs137853185

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106094G>A , CM000673.2:g.72106094G>A GRCh38
NC_000011.9:g.71817140G>A , CM000673.1:g.71817140G>A GRCh37
NC_000011.8:g.71494788G>A NCBI36
NG_021423.1:g.30759G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000541899.3:c.143G>A (TOMT) MANE Select ENSP00000494667.1:p.Arg48Gln
ENST00000541899.2:c.143G>A (TOMT) ENSP00000494667.1:p.Arg48Gln
ENST00000643715.1:c.438-2511G>A (LRTOMT) ENSP00000496019.1:n.438-2511G>A
ENST00000646163.1:c.111G>A (LRTOMT) ENSP00000494749.1:p.Ala37=
ENST00000307198.11:c.242G>A (LRRC51) ENSP00000305742.7:p.Arg81Gln
ENST00000419228.2:c.122G>A (LRRC51) ENSP00000392233.2:p.Arg41Gln
ENST00000427369.6:c.645G>A (LRRC51) ENSP00000409403.2:p.Ala215=
ENST00000435085.5:c.242G>A (LRRC51) ENSP00000409789.1:p.Arg81Gln
ENST00000439209.5:c.438-2511G>A (LRRC51) ENSP00000395139.1:n.438-2511G>A
ENST00000541899.1:n.300G>A (LRRC51)
ENST00000544409.5:c.525G>A (LRRC51) ENSP00000440969.1:p.Ala175=
NM_001145308.4:c.242G>A (LRTOMT) NP_001138780.1:p.Arg81Gln
NM_001145309.3:c.242G>A (LRTOMT) NP_001138781.1:p.Arg81Gln
NM_001145310.3:c.122G>A (LRTOMT) NP_001138782.1:p.Arg41Gln
XM_011544849.1:c.467G>A (LRTOMT) XP_011543151.1:p.Arg156Gln
XM_024448401.1:c.467G>A (LRTOMT) XP_024304169.1:p.Arg156Gln
NM_001145308.5:c.242G>A (LRTOMT) NP_001138780.1:p.Arg81Gln
NM_001145309.4:c.242G>A (LRTOMT) NP_001138781.1:p.Arg81Gln
NM_001145310.4:c.122G>A (LRTOMT) NP_001138782.1:p.Arg41Gln
NM_001393500.1:c.143G>A (TOMT) NP_001380429.1:p.Arg48Gln
NM_001393500.2:c.143G>A (TOMT) MANE Select NP_001380429.1:p.Arg48Gln