Canonical Allele Identifier: CA13387817
Community Standard Title: NC_000011.10:g.72097010T>C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72097010T>C , CM000673.2:g.72097010T>C GRCh38
NC_000011.9:g.71808056T>C , CM000673.1:g.71808056T>C GRCh37
NC_000011.8:g.71485704T>C NCBI36
NG_021423.1:g.21675T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001145308.4:c.34+1914T>C (LRTOMT) NP_001138780.1:n.34+1914T>C
NM_001145308.5:c.34+1914T>C (LRTOMT) NP_001138780.1:n.34+1914T>C
NM_001145309.3:c.34+1914T>C (LRTOMT) NP_001138781.1:n.34+1914T>C
NM_001145309.4:c.34+1914T>C (LRTOMT) NP_001138781.1:n.34+1914T>C
NM_001145310.3:c.34+1914T>C (LRTOMT) NP_001138782.1:n.34+1914T>C
NM_001145310.4:c.34+1914T>C (LRTOMT) NP_001138782.1:n.34+1914T>C
ENST00000307198.11:c.34+1914T>C (LRRC51) ENSP00000305742.7:n.34+1914T>C
ENST00000419228.2:c.34+1914T>C (LRRC51) ENSP00000392233.2:n.34+1914T>C
ENST00000427369.6:c.437+1914T>C (LRRC51) ENSP00000409403.2:n.437+1914T>C
ENST00000435085.5:c.34+1914T>C (LRRC51) ENSP00000409789.1:n.34+1914T>C
ENST00000439209.5:c.437+1914T>C (LRRC51) ENSP00000395139.1:n.437+1914T>C
ENST00000535107.5:c.266+1771A>G (LAMTOR1) ENSP00000445170.1:n.266+1771A>G
ENST00000544409.5:c.437+1914T>C (LRRC51) ENSP00000440969.1:n.437+1914T>C
ENST00000545249.5:c.393+1279A>G (LAMTOR1) ENSP00000440738.1:n.393+1279A>G
ENST00000643715.1:c.437+1914T>C (LRTOMT) ENSP00000496019.1:n.437+1914T>C
ENST00000646163.1:c.23+1914T>C (LRTOMT) ENSP00000494749.1:n.23+1914T>C