Canonical Allele Identifier: CA475592573

Gene: TOMT LRTOMT LRRC51 ANAPC15

Linked Data

• gnomAD v4: 11-72108715-G-C
• MyVariant Identifiers: chr11:g.71819761G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72108715G>C , CM000673.2:g.72108715G>C	GRCh38
NC_000011.9:g.71819761G>C , CM000673.1:g.71819761G>C	GRCh37
NC_000011.8:g.71497409G>C	NCBI36
NG_021423.1:g.33380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.567G>C (TOMT) MANE Select	ENSP00000494667.1:p.Leu189=
ENST00000541899.2:c.567G>C (TOMT)	ENSP00000494667.1:p.Leu189=
ENST00000643715.1:c.*77G>C (LRTOMT)	ENSP00000496019.1:n.*77G>C
ENST00000307198.11:c.666G>C (LRRC51)	ENSP00000305742.7:p.Leu222=
ENST00000419228.2:c.*77G>C (LRRC51)	ENSP00000392233.2:n.*77G>C
ENST00000427369.6:c.*385G>C (LRRC51)	ENSP00000409403.2:n.*385G>C
ENST00000435085.5:c.666G>C (LRRC51)	ENSP00000409789.1:p.Leu222=
ENST00000439209.5:c.*77G>C (LRRC51)	ENSP00000395139.1:n.*77G>C
ENST00000502597.2:c.64-1110C>G (ANAPC15)	ENSP00000441774.1:n.64-1110C>G
ENST00000543050.5:c.319-1110C>G (ANAPC15)	ENSP00000437360.1:n.319-1110C>G
ENST00000544409.5:c.*385G>C (LRRC51)	ENSP00000440969.1:n.*385G>C
NM_001145308.4:c.666G>C (LRTOMT)	NP_001138780.1:p.Leu222=
NM_001145309.3:c.666G>C (LRTOMT)	NP_001138781.1:p.Leu222=
NM_001145310.3:c.546G>C (LRTOMT)	NP_001138782.1:p.Leu182=
XM_011544849.1:c.891G>C (LRTOMT)	XP_011543151.1:p.Leu297=
NM_001330321.1:c.319-1110C>G (ANAPC15)	NP_001317250.1:n.319-1110C>G
XM_024448401.1:c.891G>C (LRTOMT)	XP_024304169.1:p.Leu297=
NM_001145308.5:c.666G>C (LRTOMT)	NP_001138780.1:p.Leu222=
NM_001145309.4:c.666G>C (LRTOMT)	NP_001138781.1:p.Leu222=
NM_001145310.4:c.546G>C (LRTOMT)	NP_001138782.1:p.Leu182=
NM_001330321.2:c.319-1110C>G (ANAPC15)	NP_001317250.1:n.319-1110C>G
NM_001393427.1:c.319-1110C>G (ANAPC15)	NP_001380356.1:n.319-1110C>G
NM_001393428.1:c.319-1110C>G (ANAPC15)	NP_001380357.1:n.319-1110C>G
NM_001393429.1:c.319-1110C>G (ANAPC15)	NP_001380358.1:n.319-1110C>G
NM_001393430.1:c.319-1110C>G (ANAPC15)	NP_001380359.1:n.319-1110C>G
NM_001393431.1:c.319-1110C>G (ANAPC15)	NP_001380360.1:n.319-1110C>G
NM_001393443.1:c.*104C>G (ANAPC15)	NP_001380372.1:n.*104C>G
NM_001393444.1:c.*104C>G (ANAPC15)	NP_001380373.1:n.*104C>G
NM_001393445.1:c.*104C>G (ANAPC15)	NP_001380374.1:n.*104C>G
NM_001393459.1:c.64-1110C>G (ANAPC15)	NP_001380388.1:n.64-1110C>G
NM_001393500.1:c.567G>C (TOMT)	NP_001380429.1:p.Leu189=
NR_171687.1:n.728C>G (ANAPC15)
NM_001393500.2:c.567G>C (TOMT) MANE Select	NP_001380429.1:p.Leu189=