Canonical Allele Identifier: CA350777811
Community Standard Title: NM_001371986.1(UNC80):c.8120G>T (p.Cys2707Phe)
Gene: UNC80 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.209969881G>T , CM000664.2:g.209969881G>T GRCh38
NC_000002.11:g.210834605G>T , CM000664.1:g.210834605G>T GRCh37
NC_000002.10:g.210542850G>T NCBI36
NG_051361.1:g.202957G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001371986.1:c.8120G>T MANE Select NP_001358915.1:p.Cys2707Phe
ENST00000673920.1:c.8120G>T MANE Select ENSP00000501211.1:p.Cys2707Phe
NM_032504.1:c.7922G>T NP_115893.1:p.Cys2641Phe
NM_032504.2:c.7922G>T NP_115893.1:p.Cys2641Phe
NM_182587.3:c.7907G>T NP_872393.3:p.Cys2636Phe
NM_182587.4:c.7907G>T NP_872393.3:p.Cys2636Phe
ENST00000272845.10:c.7907G>T ENSP00000272845.5:p.Cys2636Phe
ENST00000333907.3:c.500G>T ENSP00000335576.2:p.Cys167Phe
ENST00000439458.5:c.7922G>T ENSP00000391088.1:p.Cys2641Phe
ENST00000477924.1:n.670G>T
ENST00000489023.5:n.7577G>T
ENST00000673951.1:c.7916G>T ENSP00000501012.1:p.Cys2639Phe
XM_005246476.1:c.8117G>T XP_005246533.1:p.Cys2706Phe
XM_011511004.1:c.8162G>T XP_011509306.1:p.Cys2721Phe
XM_011511005.1:c.8159G>T XP_011509307.1:p.Cys2720Phe
XM_011511006.1:c.8156G>T XP_011509308.1:p.Cys2719Phe
XM_011511007.1:c.8126G>T XP_011509309.1:p.Cys2709Phe
XM_011511008.1:c.8162G>T XP_011509310.1:p.Cys2721Phe
XM_011511009.1:c.8162G>T XP_011509311.1:p.Cys2721Phe
XM_011511010.2:c.*136G>T XP_011509312.1:n.*136G>T
XM_017003884.1:c.8147G>T XP_016859373.1:p.Cys2716Phe
XM_017003885.1:c.8120G>T XP_016859374.1:p.Cys2707Phe
XM_017003886.1:c.8162G>T XP_016859375.1:p.Cys2721Phe
XM_017003887.1:c.7958G>T XP_016859376.1:p.Cys2653Phe
XM_017003888.1:c.7916G>T XP_016859377.1:p.Cys2639Phe
XM_017003889.1:c.7913G>T XP_016859378.1:p.Cys2638Phe
XM_017003890.1:c.7901G>T XP_016859379.1:p.Cys2634Phe
XM_017003891.1:c.7808G>T XP_016859380.1:p.Cys2603Phe
XM_017003892.1:c.5645G>T XP_016859381.1:p.Cys1882Phe
XM_017003894.1:c.4346G>T XP_016859383.1:p.Cys1449Phe
XR_002959283.1:n.8242G>T