Canonical Allele Identifier: CA381720781

Gene: TOMT LRTOMT LRRC51 ANAPC15

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72107944T>C , CM000673.2:g.72107944T>C	GRCh38
NC_000011.9:g.71818990T>C , CM000673.1:g.71818990T>C	GRCh37
NC_000011.8:g.71496638T>C	NCBI36
NG_021423.1:g.32609T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001393500.2:c.281T>C (TOMT) MANE Select	NP_001380429.1:p.Val94Ala
ENST00000541899.3:c.281T>C (TOMT) MANE Select	ENSP00000494667.1:p.Val94Ala
NM_001145308.4:c.380T>C (LRTOMT)	NP_001138780.1:p.Val127Ala
NM_001145308.5:c.380T>C (LRTOMT)	NP_001138780.1:p.Val127Ala
NM_001145309.3:c.380T>C (LRTOMT)	NP_001138781.1:p.Val127Ala
NM_001145309.4:c.380T>C (LRTOMT)	NP_001138781.1:p.Val127Ala
NM_001145310.3:c.260T>C (LRTOMT)	NP_001138782.1:p.Val87Ala
NM_001145310.4:c.260T>C (LRTOMT)	NP_001138782.1:p.Val87Ala
NM_001330321.1:c.319-339A>G (ANAPC15)	NP_001317250.1:n.319-339A>G
NM_001330321.2:c.319-339A>G (ANAPC15)	NP_001317250.1:n.319-339A>G
NM_001393427.1:c.319-339A>G (ANAPC15)	NP_001380356.1:n.319-339A>G
NM_001393428.1:c.319-339A>G (ANAPC15)	NP_001380357.1:n.319-339A>G
NM_001393429.1:c.319-339A>G (ANAPC15)	NP_001380358.1:n.319-339A>G
NM_001393430.1:c.319-339A>G (ANAPC15)	NP_001380359.1:n.319-339A>G
NM_001393431.1:c.319-339A>G (ANAPC15)	NP_001380360.1:n.319-339A>G
NM_001393443.1:c.*875A>G (ANAPC15)	NP_001380372.1:n.*875A>G
NM_001393444.1:c.*875A>G (ANAPC15)	NP_001380373.1:n.*875A>G
NM_001393445.1:c.*875A>G (ANAPC15)	NP_001380374.1:n.*875A>G
NM_001393459.1:c.64-339A>G (ANAPC15)	NP_001380388.1:n.64-339A>G
NM_001393500.1:c.281T>C (TOMT)	NP_001380429.1:p.Val94Ala
NR_171687.1:n.1499A>G (ANAPC15)
ENST00000307198.11:c.380T>C (LRRC51)	ENSP00000305742.7:p.Val127Ala
ENST00000419228.2:c.260T>C (LRRC51)	ENSP00000392233.2:p.Val87Ala
ENST00000427369.6:c.*99T>C (LRRC51)	ENSP00000409403.2:n.*99T>C
ENST00000435085.5:c.380T>C (LRRC51)	ENSP00000409789.1:p.Val127Ala
ENST00000439209.5:c.438-661T>C (LRRC51)	ENSP00000395139.1:n.438-661T>C
ENST00000502597.2:c.64-339A>G (ANAPC15)	ENSP00000441774.1:n.64-339A>G
ENST00000541899.1:n.438T>C (LRRC51)
ENST00000541899.2:c.281T>C (TOMT)	ENSP00000494667.1:p.Val94Ala
ENST00000543050.5:c.319-339A>G (ANAPC15)	ENSP00000437360.1:n.319-339A>G
ENST00000544409.5:c.*99T>C (LRRC51)	ENSP00000440969.1:n.*99T>C
ENST00000643715.1:c.438-661T>C (LRTOMT)	ENSP00000496019.1:n.438-661T>C
ENST00000646163.1:c.*99T>C (LRTOMT)	ENSP00000494749.1:n.*99T>C
XM_011544849.1:c.605T>C (LRTOMT)	XP_011543151.1:p.Val202Ala
XM_024448401.1:c.605T>C (LRTOMT)	XP_024304169.1:p.Val202Ala