Canonical Allele Identifier: CA1981839947

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106179C= , CM000673.2:g.72106179C= GRCh38
NC_000011.9:g.71817225C= , CM000673.1:g.71817225C= GRCh37
NC_000011.8:g.71494873C= NCBI36
NG_021423.1:g.30844C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.228C= (TOMT) MANE Select ENSP00000494667.1:p.Cys76=
ENST00000541899.2:c.228C= (TOMT) ENSP00000494667.1:p.Cys76=
ENST00000643715.1:c.438-2426C= (LRTOMT) ENSP00000496019.1:n.438-2426C=
ENST00000646163.1:c.*46C= (LRTOMT) ENSP00000494749.1:n.*46C=
ENST00000307198.11:c.327C= (LRRC51) ENSP00000305742.7:p.Cys109=
ENST00000419228.2:c.207C= (LRRC51) ENSP00000392233.2:p.Cys69=
ENST00000427369.6:c.*46C= (LRRC51) ENSP00000409403.2:n.*46C=
ENST00000435085.5:c.327C= (LRRC51) ENSP00000409789.1:p.Cys109=
ENST00000439209.5:c.438-2426C= (LRRC51) ENSP00000395139.1:n.438-2426C=
ENST00000541899.1:n.385C= (LRRC51)
ENST00000544409.5:c.*46C= (LRRC51) ENSP00000440969.1:n.*46C=
NM_001145308.4:c.327C= (LRTOMT) NP_001138780.1:p.Cys109=
NM_001145309.3:c.327C= (LRTOMT) NP_001138781.1:p.Cys109=
NM_001145310.3:c.207C= (LRTOMT) NP_001138782.1:p.Cys69=
XM_011544849.1:c.552C= (LRTOMT) XP_011543151.1:p.Cys184=
XM_024448401.1:c.552C= (LRTOMT) XP_024304169.1:p.Cys184=
NM_001145308.5:c.327C= (LRTOMT) NP_001138780.1:p.Cys109=
NM_001145309.4:c.327C= (LRTOMT) NP_001138781.1:p.Cys109=
NM_001145310.4:c.207C= (LRTOMT) NP_001138782.1:p.Cys69=
NM_001393500.1:c.228C= (TOMT) NP_001380429.1:p.Cys76=
NM_001393500.2:c.228C= (TOMT) MANE Select NP_001380429.1:p.Cys76=