Canonical Allele Identifier: CA397343162
Gene: USP6 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.5139599T>A , CM000679.2:g.5139599T>A GRCh38
NC_000017.10:g.5042894T>A , CM000679.1:g.5042894T>A GRCh37
NC_000017.9:g.4983618T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000574788.6:c.1423T>A MANE Select ENSP00000460380.1:p.Trp475Arg
ENST00000250066.6:c.1423T>A ENSP00000250066.6:p.Trp475Arg
ENST00000572949.5:c.1423T>A ENSP00000461581.1:p.Trp475Arg
ENST00000574788.5:c.1423T>A ENSP00000460380.1:p.Trp475Arg
ENST00000575709.5:c.*503T>A ENSP00000461817.1:n.*503T>A
NM_001304284.1:c.1423T>A NP_001291213.1:p.Trp475Arg
NM_004505.3:c.1423T>A NP_004496.2:p.Trp475Arg
XM_011524049.1:c.1423T>A XP_011522351.1:p.Trp475Arg
XM_011524050.1:c.1423T>A XP_011522352.1:p.Trp475Arg
XM_011524051.1:c.1423T>A XP_011522353.1:p.Trp475Arg
XM_011524052.1:c.1423T>A XP_011522354.1:p.Trp475Arg
XM_011524053.1:c.1423T>A XP_011522355.1:p.Trp475Arg
XM_011524054.1:c.1423T>A XP_011522356.1:p.Trp475Arg
XM_011524055.1:c.1423T>A XP_011522357.1:p.Trp475Arg
XM_011524056.1:c.1423T>A XP_011522358.1:p.Trp475Arg
XM_011524057.1:c.1357T>A XP_011522359.1:p.Trp453Arg
XM_011524058.1:c.1423T>A XP_011522360.1:p.Trp475Arg
XM_011524059.1:c.1423T>A XP_011522361.1:p.Trp475Arg
XM_011524051.2:c.1423T>A XP_011522353.1:p.Trp475Arg
XM_011524052.2:c.1423T>A XP_011522354.1:p.Trp475Arg
XM_011524053.2:c.1423T>A XP_011522355.1:p.Trp475Arg
XM_011524054.2:c.1423T>A XP_011522356.1:p.Trp475Arg
XM_011524055.2:c.1423T>A XP_011522357.1:p.Trp475Arg
XM_011524056.2:c.1423T>A XP_011522358.1:p.Trp475Arg
XM_011524057.2:c.1357T>A XP_011522359.1:p.Trp453Arg
XM_011524058.2:c.1423T>A XP_011522360.1:p.Trp475Arg
XM_011524059.2:c.1423T>A XP_011522361.1:p.Trp475Arg
XM_017025290.1:c.1423T>A XP_016880779.1:p.Trp475Arg
NM_001304284.2:c.1423T>A MANE Select NP_001291213.1:p.Trp475Arg
NM_004505.4:c.1423T>A NP_004496.2:p.Trp475Arg