Canonical Allele Identifier: CA2614922801

Gene: TOMT LRRC51 ANAPC15 LRTOMT

Linked Data

• gnomAD v4: 11-72109466-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72109466A>C , CM000673.2:g.72109466A>C	GRCh38
NC_000011.9:g.71820512A>C , CM000673.1:g.71820512A>C	GRCh37
NC_000011.8:g.71498160A>C	NCBI36
NG_021423.1:g.34131A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541899.3:c.*541A>C (TOMT) MANE Select	ENSP00000494667.1:n.*541A>C
ENST00000307198.11:c.*541A>C (LRRC51)	ENSP00000305742.7:n.*541A>C
ENST00000419228.2:c.*828A>C (LRRC51)	ENSP00000392233.2:n.*828A>C
ENST00000427369.6:c.*1136A>C (LRRC51)	ENSP00000409403.2:n.*1136A>C
ENST00000435085.5:c.*541A>C (LRRC51)	ENSP00000409789.1:n.*541A>C
ENST00000502597.2:c.63+622T>G (ANAPC15)	ENSP00000441774.1:n.63+622T>G
ENST00000538117.5:c.319-125T>G (ANAPC15)	ENSP00000445212.1:n.319-125T>G
ENST00000543050.5:c.318+622T>G (ANAPC15)	ENSP00000437360.1:n.318+622T>G
ENST00000544409.5:c.*1136A>C (LRRC51)	ENSP00000440969.1:n.*1136A>C
NM_001145308.4:c.*541A>C (LRTOMT)	NP_001138780.1:n.*541A>C
NM_001145309.3:c.*541A>C (LRTOMT)	NP_001138781.1:n.*541A>C
NM_001145310.3:c.*541A>C (LRTOMT)	NP_001138782.1:n.*541A>C
XM_011544849.1:c.1642A>C (LRTOMT)	XP_011543151.1:n.1642A>C
NM_001330321.1:c.318+622T>G (ANAPC15)	NP_001317250.1:n.318+622T>G
NM_001145308.5:c.*541A>C (LRTOMT)	NP_001138780.1:n.*541A>C
NM_001145309.4:c.*541A>C (LRTOMT)	NP_001138781.1:n.*541A>C
NM_001145310.4:c.*541A>C (LRTOMT)	NP_001138782.1:n.*541A>C
NM_001330321.2:c.318+622T>G (ANAPC15)	NP_001317250.1:n.318+622T>G
NM_001393427.1:c.318+622T>G (ANAPC15)	NP_001380356.1:n.318+622T>G
NM_001393428.1:c.318+622T>G (ANAPC15)	NP_001380357.1:n.318+622T>G
NM_001393429.1:c.318+622T>G (ANAPC15)	NP_001380358.1:n.318+622T>G
NM_001393430.1:c.318+622T>G (ANAPC15)	NP_001380359.1:n.318+622T>G
NM_001393431.1:c.318+622T>G (ANAPC15)	NP_001380360.1:n.318+622T>G
NM_001393443.1:c.319-591T>G (ANAPC15)	NP_001380372.1:n.319-591T>G
NM_001393444.1:c.319-591T>G (ANAPC15)	NP_001380373.1:n.319-591T>G
NM_001393445.1:c.319-591T>G (ANAPC15)	NP_001380374.1:n.319-591T>G
NM_001393459.1:c.63+622T>G (ANAPC15)	NP_001380388.1:n.63+622T>G
NM_001393500.1:c.*541A>C (TOMT)	NP_001380429.1:n.*541A>C
NR_171687.1:n.455-125T>G (ANAPC15)
NM_001393500.2:c.*541A>C (TOMT) MANE Select	NP_001380429.1:n.*541A>C