Canonical Allele Identifier: CA381727340

Gene: TOMT LRTOMT LRRC51 ANAPC15

Linked Data

• gnomAD v4: 11-72108872-T-G
• MyVariant Identifiers: chr11:g.71819918T>G (hg19) ; chr11:g.72108872T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72108872T>G , CM000673.2:g.72108872T>G	GRCh38
NC_000011.9:g.71819918T>G , CM000673.1:g.71819918T>G	GRCh37
NC_000011.8:g.71497566T>G	NCBI36
NG_021423.1:g.33537T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.724T>G (TOMT) MANE Select	ENSP00000494667.1:p.Phe242Val
ENST00000541899.2:c.724T>G (TOMT)	ENSP00000494667.1:p.Phe242Val
ENST00000643715.1:c.*234T>G (LRTOMT)	ENSP00000496019.1:n.*234T>G
ENST00000307198.11:c.823T>G (LRRC51)	ENSP00000305742.7:p.Phe275Val
ENST00000419228.2:c.*234T>G (LRRC51)	ENSP00000392233.2:n.*234T>G
ENST00000427369.6:c.*542T>G (LRRC51)	ENSP00000409403.2:n.*542T>G
ENST00000435085.5:c.823T>G (LRRC51)	ENSP00000409789.1:p.Phe275Val
ENST00000502597.2:c.63+1216A>C (ANAPC15)	ENSP00000441774.1:n.63+1216A>C
ENST00000538117.5:c.*102A>C (ANAPC15)	ENSP00000445212.1:n.*102A>C
ENST00000543050.5:c.318+1216A>C (ANAPC15)	ENSP00000437360.1:n.318+1216A>C
ENST00000544409.5:c.*542T>G (LRRC51)	ENSP00000440969.1:n.*542T>G
NM_001145308.4:c.823T>G (LRTOMT)	NP_001138780.1:p.Phe275Val
NM_001145309.3:c.823T>G (LRTOMT)	NP_001138781.1:p.Phe275Val
NM_001145310.3:c.703T>G (LRTOMT)	NP_001138782.1:p.Phe235Val
XM_011544849.1:c.1048T>G (LRTOMT)	XP_011543151.1:p.Phe350Val
NM_001330321.1:c.318+1216A>C (ANAPC15)	NP_001317250.1:n.318+1216A>C
XM_024448401.1:c.1048T>G (LRTOMT)	XP_024304169.1:p.Phe350Val
NM_001145308.5:c.823T>G (LRTOMT)	NP_001138780.1:p.Phe275Val
NM_001145309.4:c.823T>G (LRTOMT)	NP_001138781.1:p.Phe275Val
NM_001145310.4:c.703T>G (LRTOMT)	NP_001138782.1:p.Phe235Val
NM_001330321.2:c.318+1216A>C (ANAPC15)	NP_001317250.1:n.318+1216A>C
NM_001393427.1:c.318+1216A>C (ANAPC15)	NP_001380356.1:n.318+1216A>C
NM_001393428.1:c.318+1216A>C (ANAPC15)	NP_001380357.1:n.318+1216A>C
NM_001393429.1:c.318+1216A>C (ANAPC15)	NP_001380358.1:n.318+1216A>C
NM_001393430.1:c.318+1216A>C (ANAPC15)	NP_001380359.1:n.318+1216A>C
NM_001393431.1:c.318+1216A>C (ANAPC15)	NP_001380360.1:n.318+1216A>C
NM_001393443.1:c.322A>C (ANAPC15)	NP_001380372.1:p.Ser108Arg
NM_001393444.1:c.322A>C (ANAPC15)	NP_001380373.1:p.Ser108Arg
NM_001393445.1:c.322A>C (ANAPC15)	NP_001380374.1:p.Ser108Arg
NM_001393459.1:c.63+1216A>C (ANAPC15)	NP_001380388.1:n.63+1216A>C
NM_001393500.1:c.724T>G (TOMT)	NP_001380429.1:p.Phe242Val
NR_171687.1:n.571A>C (ANAPC15)
NM_001393500.2:c.724T>G (TOMT) MANE Select	NP_001380429.1:p.Phe242Val