Canonical Allele Identifier: CA1981841401

Gene: TOMT LRRC51 ANAPC15 LRTOMT

Linked Data

• dbSNP Id: rs1346824019
• gnomAD v3: 11-72109452-C-A
• gnomAD v4: 11-72109452-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72109452C>A , CM000673.2:g.72109452C>A	GRCh38
NC_000011.9:g.71820498C>A , CM000673.1:g.71820498C>A	GRCh37
NC_000011.8:g.71498146C>A	NCBI36
NG_021423.1:g.34117C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000541899.3:c.*527C>A (TOMT) MANE Select	ENSP00000494667.1:n.*527C>A
ENST00000307198.11:c.*527C>A (LRRC51)	ENSP00000305742.7:n.*527C>A
ENST00000419228.2:c.*814C>A (LRRC51)	ENSP00000392233.2:n.*814C>A
ENST00000427369.6:c.*1122C>A (LRRC51)	ENSP00000409403.2:n.*1122C>A
ENST00000435085.5:c.*527C>A (LRRC51)	ENSP00000409789.1:n.*527C>A
ENST00000502597.2:c.63+636G>T (ANAPC15)	ENSP00000441774.1:n.63+636G>T
ENST00000538117.5:c.319-111G>T (ANAPC15)	ENSP00000445212.1:n.319-111G>T
ENST00000543050.5:c.318+636G>T (ANAPC15)	ENSP00000437360.1:n.318+636G>T
ENST00000544409.5:c.*1122C>A (LRRC51)	ENSP00000440969.1:n.*1122C>A
NM_001145308.4:c.*527C>A (LRTOMT)	NP_001138780.1:n.*527C>A
NM_001145309.3:c.*527C>A (LRTOMT)	NP_001138781.1:n.*527C>A
NM_001145310.3:c.*527C>A (LRTOMT)	NP_001138782.1:n.*527C>A
XM_011544849.1:c.1628C>A (LRTOMT)	XP_011543151.1:n.1628C>A
NM_001330321.1:c.318+636G>T (ANAPC15)	NP_001317250.1:n.318+636G>T
NM_001145308.5:c.*527C>A (LRTOMT)	NP_001138780.1:n.*527C>A
NM_001145309.4:c.*527C>A (LRTOMT)	NP_001138781.1:n.*527C>A
NM_001145310.4:c.*527C>A (LRTOMT)	NP_001138782.1:n.*527C>A
NM_001330321.2:c.318+636G>T (ANAPC15)	NP_001317250.1:n.318+636G>T
NM_001393427.1:c.318+636G>T (ANAPC15)	NP_001380356.1:n.318+636G>T
NM_001393428.1:c.318+636G>T (ANAPC15)	NP_001380357.1:n.318+636G>T
NM_001393429.1:c.318+636G>T (ANAPC15)	NP_001380358.1:n.318+636G>T
NM_001393430.1:c.318+636G>T (ANAPC15)	NP_001380359.1:n.318+636G>T
NM_001393431.1:c.318+636G>T (ANAPC15)	NP_001380360.1:n.318+636G>T
NM_001393443.1:c.319-577G>T (ANAPC15)	NP_001380372.1:n.319-577G>T
NM_001393444.1:c.319-577G>T (ANAPC15)	NP_001380373.1:n.319-577G>T
NM_001393445.1:c.319-577G>T (ANAPC15)	NP_001380374.1:n.319-577G>T
NM_001393459.1:c.63+636G>T (ANAPC15)	NP_001380388.1:n.63+636G>T
NM_001393500.1:c.*527C>A (TOMT)	NP_001380429.1:n.*527C>A
NR_171687.1:n.455-111G>T (ANAPC15)
NM_001393500.2:c.*527C>A (TOMT) MANE Select	NP_001380429.1:n.*527C>A