Canonical Allele Identifier: CA2083032
Community Standard Title: NM_001371986.1(UNC80):c.2534C>T (p.Thr845Ile)
Gene: UNC80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.209829287C>T , CM000664.2:g.209829287C>T GRCh38
NC_000002.11:g.210694011C>T , CM000664.1:g.210694011C>T GRCh37
NC_000002.10:g.210402256C>T NCBI36
NG_051361.1:g.62363C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001371986.1:c.2534C>T MANE Select NP_001358915.1:p.Thr845Ile
ENST00000673920.1:c.2534C>T MANE Select ENSP00000501211.1:p.Thr845Ile
NM_032504.1:c.2534C>T NP_115893.1:p.Thr845Ile
NM_032504.2:c.2534C>T NP_115893.1:p.Thr845Ile
NM_182587.3:c.2519C>T NP_872393.3:p.Thr840Ile
NM_182587.4:c.2519C>T NP_872393.3:p.Thr840Ile
ENST00000272845.10:c.2519C>T ENSP00000272845.5:p.Thr840Ile
ENST00000439458.5:c.2534C>T ENSP00000391088.1:p.Thr845Ile
ENST00000489023.5:n.59C>T
ENST00000673951.1:c.2534C>T ENSP00000501012.1:p.Thr845Ile
XM_005246476.1:c.2534C>T XP_005246533.1:p.Thr845Ile
XM_011511004.1:c.2534C>T XP_011509306.1:p.Thr845Ile
XM_011511005.1:c.2534C>T XP_011509307.1:p.Thr845Ile
XM_011511006.1:c.2534C>T XP_011509308.1:p.Thr845Ile
XM_011511007.1:c.2534C>T XP_011509309.1:p.Thr845Ile
XM_011511008.1:c.2534C>T XP_011509310.1:p.Thr845Ile
XM_011511009.1:c.2534C>T XP_011509311.1:p.Thr845Ile
XM_011511010.1:c.2534C>T XP_011509312.1:p.Thr845Ile
XM_011511010.2:c.2534C>T XP_011509312.1:p.Thr845Ile
XM_011511011.1:c.2534C>T XP_011509313.1:p.Thr845Ile
XM_011511012.1:c.2534C>T XP_011509314.1:p.Thr845Ile
XM_017003884.1:c.2519C>T XP_016859373.1:p.Thr840Ile
XM_017003885.1:c.2534C>T XP_016859374.1:p.Thr845Ile
XM_017003886.1:c.2534C>T XP_016859375.1:p.Thr845Ile
XM_017003887.1:c.2534C>T XP_016859376.1:p.Thr845Ile
XM_017003888.1:c.2534C>T XP_016859377.1:p.Thr845Ile
XM_017003889.1:c.2534C>T XP_016859378.1:p.Thr845Ile
XM_017003890.1:c.2519C>T XP_016859379.1:p.Thr840Ile
XM_017003891.1:c.2180C>T XP_016859380.1:p.Thr727Ile
XM_017003892.1:c.17C>T XP_016859381.1:p.Thr6Ile
XM_017003893.1:c.2534C>T XP_016859382.1:p.Thr845Ile
XR_002959283.1:n.2614C>T