Canonical Allele Identifier: CA224375888

Gene: TOMT LRRC51 ANAPC15 LRTOMT

Linked Data

• dbSNP Id: rs1030803490
• gnomAD v2: 11-71820367-C-T
• gnomAD v4: 11-72109321-C-T
• MyVariant Identifiers: chr11:g.71820367C>T (hg19) ; chr11:g.72109321C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72109321C>T , CM000673.2:g.72109321C>T	GRCh38
NC_000011.9:g.71820367C>T , CM000673.1:g.71820367C>T	GRCh37
NC_000011.8:g.71498015C>T	NCBI36
NG_021423.1:g.33986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.*396C>T (TOMT) MANE Select	ENSP00000494667.1:n.*396C>T
ENST00000541899.2:c.*396C>T (TOMT)	ENSP00000494667.1:n.*396C>T
ENST00000307198.11:c.*396C>T (LRRC51)	ENSP00000305742.7:n.*396C>T
ENST00000419228.2:c.*683C>T (LRRC51)	ENSP00000392233.2:n.*683C>T
ENST00000427369.6:c.*991C>T (LRRC51)	ENSP00000409403.2:n.*991C>T
ENST00000435085.5:c.*396C>T (LRRC51)	ENSP00000409789.1:n.*396C>T
ENST00000502597.2:c.63+767G>A (ANAPC15)	ENSP00000441774.1:n.63+767G>A
ENST00000538117.5:c.*6G>A (ANAPC15)	ENSP00000445212.1:n.*6G>A
ENST00000543050.5:c.318+767G>A (ANAPC15)	ENSP00000437360.1:n.318+767G>A
ENST00000544409.5:c.*991C>T (LRRC51)	ENSP00000440969.1:n.*991C>T
NM_001145308.4:c.*396C>T (LRTOMT)	NP_001138780.1:n.*396C>T
NM_001145309.3:c.*396C>T (LRTOMT)	NP_001138781.1:n.*396C>T
NM_001145310.3:c.*396C>T (LRTOMT)	NP_001138782.1:n.*396C>T
XM_011544849.1:c.1497C>T (LRTOMT)	XP_011543151.1:n.1497C>T
NM_001330321.1:c.318+767G>A (ANAPC15)	NP_001317250.1:n.318+767G>A
XM_024448401.1:c.1497C>T (LRTOMT)	XP_024304169.1:n.1497C>T
NM_001145308.5:c.*396C>T (LRTOMT)	NP_001138780.1:n.*396C>T
NM_001145309.4:c.*396C>T (LRTOMT)	NP_001138781.1:n.*396C>T
NM_001145310.4:c.*396C>T (LRTOMT)	NP_001138782.1:n.*396C>T
NM_001330321.2:c.318+767G>A (ANAPC15)	NP_001317250.1:n.318+767G>A
NM_001393427.1:c.318+767G>A (ANAPC15)	NP_001380356.1:n.318+767G>A
NM_001393428.1:c.318+767G>A (ANAPC15)	NP_001380357.1:n.318+767G>A
NM_001393429.1:c.318+767G>A (ANAPC15)	NP_001380358.1:n.318+767G>A
NM_001393430.1:c.318+767G>A (ANAPC15)	NP_001380359.1:n.318+767G>A
NM_001393431.1:c.318+767G>A (ANAPC15)	NP_001380360.1:n.318+767G>A
NM_001393443.1:c.319-446G>A (ANAPC15)	NP_001380372.1:n.319-446G>A
NM_001393444.1:c.319-446G>A (ANAPC15)	NP_001380373.1:n.319-446G>A
NM_001393445.1:c.319-446G>A (ANAPC15)	NP_001380374.1:n.319-446G>A
NM_001393459.1:c.63+767G>A (ANAPC15)	NP_001380388.1:n.63+767G>A
NM_001393500.1:c.*396C>T (TOMT)	NP_001380429.1:n.*396C>T
NR_171687.1:n.475G>A (ANAPC15)
NM_001393500.2:c.*396C>T (TOMT) MANE Select	NP_001380429.1:n.*396C>T