Canonical Allele Identifier: CA2083138

Gene: UNC80

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.209849546C>T , CM000664.2:g.209849546C>T	GRCh38
NC_000002.11:g.210714270C>T , CM000664.1:g.210714270C>T	GRCh37
NC_000002.10:g.210422515C>T	NCBI36
NG_051361.1:g.82622C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001371986.1:c.3550C>T MANE Select	NP_001358915.1:p.Arg1184Cys
ENST00000673920.1:c.3550C>T MANE Select	ENSP00000501211.1:p.Arg1184Cys
NM_032504.1:c.3556C>T	NP_115893.1:p.Arg1186Cys
NM_032504.2:c.3556C>T	NP_115893.1:p.Arg1186Cys
NM_182587.3:c.3541C>T	NP_872393.3:p.Arg1181Cys
NM_182587.4:c.3541C>T	NP_872393.3:p.Arg1181Cys
ENST00000272845.10:c.3541C>T	ENSP00000272845.5:p.Arg1181Cys
ENST00000439458.5:c.3556C>T	ENSP00000391088.1:p.Arg1186Cys
ENST00000477301.1:n.226C>T
ENST00000489023.5:n.1081C>T
ENST00000673951.1:c.3550C>T	ENSP00000501012.1:p.Arg1184Cys
XM_005246476.1:c.3550C>T	XP_005246533.1:p.Arg1184Cys
XM_011511004.1:c.3556C>T	XP_011509306.1:p.Arg1186Cys
XM_011511005.1:c.3556C>T	XP_011509307.1:p.Arg1186Cys
XM_011511006.1:c.3550C>T	XP_011509308.1:p.Arg1184Cys
XM_011511007.1:c.3556C>T	XP_011509309.1:p.Arg1186Cys
XM_011511008.1:c.3556C>T	XP_011509310.1:p.Arg1186Cys
XM_011511009.1:c.3556C>T	XP_011509311.1:p.Arg1186Cys
XM_011511010.1:c.3556C>T	XP_011509312.1:p.Arg1186Cys
XM_011511010.2:c.3556C>T	XP_011509312.1:p.Arg1186Cys
XM_011511011.1:c.3556C>T	XP_011509313.1:p.Arg1186Cys
XM_011511012.1:c.3556C>T	XP_011509314.1:p.Arg1186Cys
XM_017003884.1:c.3541C>T	XP_016859373.1:p.Arg1181Cys
XM_017003885.1:c.3550C>T	XP_016859374.1:p.Arg1184Cys
XM_017003886.1:c.3556C>T	XP_016859375.1:p.Arg1186Cys
XM_017003887.1:c.3556C>T	XP_016859376.1:p.Arg1186Cys
XM_017003888.1:c.3550C>T	XP_016859377.1:p.Arg1184Cys
XM_017003889.1:c.3550C>T	XP_016859378.1:p.Arg1184Cys
XM_017003890.1:c.3535C>T	XP_016859379.1:p.Arg1179Cys
XM_017003891.1:c.3202C>T	XP_016859380.1:p.Arg1068Cys
XM_017003892.1:c.1039C>T	XP_016859381.1:p.Arg347Cys
XM_017003893.1:c.3556C>T	XP_016859382.1:p.Arg1186Cys
XR_002959283.1:n.3636C>T