Canonical Allele Identifier: CA1981839925

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72106134C= , CM000673.2:g.72106134C= GRCh38
NC_000011.9:g.71817180C= , CM000673.1:g.71817180C= GRCh37
NC_000011.8:g.71494828C= NCBI36
NG_021423.1:g.30799C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.183C= (TOMT) MANE Select ENSP00000494667.1:p.Asp61=
ENST00000541899.2:c.183C= (TOMT) ENSP00000494667.1:p.Asp61=
ENST00000643715.1:c.438-2471C= (LRTOMT) ENSP00000496019.1:n.438-2471C=
ENST00000646163.1:c.*1C= (LRTOMT) ENSP00000494749.1:n.*1C=
ENST00000307198.11:c.282C= (LRRC51) ENSP00000305742.7:p.Asp94=
ENST00000419228.2:c.162C= (LRRC51) ENSP00000392233.2:p.Asp54=
ENST00000427369.6:c.*1C= (LRRC51) ENSP00000409403.2:n.*1C=
ENST00000435085.5:c.282C= (LRRC51) ENSP00000409789.1:p.Asp94=
ENST00000439209.5:c.438-2471C= (LRRC51) ENSP00000395139.1:n.438-2471C=
ENST00000541899.1:n.340C= (LRRC51)
ENST00000544409.5:c.*1C= (LRRC51) ENSP00000440969.1:n.*1C=
NM_001145308.4:c.282C= (LRTOMT) NP_001138780.1:p.Asp94=
NM_001145309.3:c.282C= (LRTOMT) NP_001138781.1:p.Asp94=
NM_001145310.3:c.162C= (LRTOMT) NP_001138782.1:p.Asp54=
XM_011544849.1:c.507C= (LRTOMT) XP_011543151.1:p.Asp169=
XM_024448401.1:c.507C= (LRTOMT) XP_024304169.1:p.Asp169=
NM_001145308.5:c.282C= (LRTOMT) NP_001138780.1:p.Asp94=
NM_001145309.4:c.282C= (LRTOMT) NP_001138781.1:p.Asp94=
NM_001145310.4:c.162C= (LRTOMT) NP_001138782.1:p.Asp54=
NM_001393500.1:c.183C= (TOMT) NP_001380429.1:p.Asp61=
NM_001393500.2:c.183C= (TOMT) MANE Select NP_001380429.1:p.Asp61=