Canonical Allele Identifier: CA1981839845

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72105966T= , CM000673.2:g.72105966T= GRCh38
NC_000011.9:g.71817012T= , CM000673.1:g.71817012T= GRCh37
NC_000011.8:g.71494660T= NCBI36
NG_021423.1:g.30631T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000541899.3:c.15T= (TOMT) MANE Select ENSP00000494667.1:p.Ile5=
ENST00000541899.2:c.15T= (TOMT) ENSP00000494667.1:p.Ile5=
ENST00000643715.1:c.438-2639T= (LRTOMT) ENSP00000496019.1:n.438-2639T=
ENST00000646163.1:c.73-90T= (LRTOMT) ENSP00000494749.1:n.73-90T=
ENST00000307198.11:c.114T= (LRRC51) ENSP00000305742.7:p.Ile38=
ENST00000419228.2:c.84-90T= (LRRC51) ENSP00000392233.2:n.84-90T=
ENST00000427369.6:c.517T= (LRRC51) ENSP00000409403.2:p.Cys173=
ENST00000435085.5:c.114T= (LRRC51) ENSP00000409789.1:p.Ile38=
ENST00000439209.5:c.438-2639T= (LRRC51) ENSP00000395139.1:n.438-2639T=
ENST00000541899.1:n.172T= (LRRC51)
ENST00000544409.5:c.487-90T= (LRRC51) ENSP00000440969.1:n.487-90T=
NM_001145308.4:c.114T= (LRTOMT) NP_001138780.1:p.Ile38=
NM_001145309.3:c.114T= (LRTOMT) NP_001138781.1:p.Ile38=
NM_001145310.3:c.84-90T= (LRTOMT) NP_001138782.1:n.84-90T=
XM_011544849.1:c.339T= (LRTOMT) XP_011543151.1:p.Ile113=
XM_024448401.1:c.339T= (LRTOMT) XP_024304169.1:p.Ile113=
NM_001145308.5:c.114T= (LRTOMT) NP_001138780.1:p.Ile38=
NM_001145309.4:c.114T= (LRTOMT) NP_001138781.1:p.Ile38=
NM_001145310.4:c.84-90T= (LRTOMT) NP_001138782.1:n.84-90T=
NM_001393500.1:c.15T= (TOMT) NP_001380429.1:p.Ile5=
NM_001393500.2:c.15T= (TOMT) MANE Select NP_001380429.1:p.Ile5=