Canonical Allele Identifier: CA122965187
Gene: ERAP1 HGNC NCBI

Linked Data

dbSNP Id: rs867003965
gnomAD v3: 5-96786522-G-T
gnomAD v4: 5-96786522-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96786522G>T , CM000667.2:g.96786522G>T GRCh38
NC_000005.9:g.96122226G>T , CM000667.1:g.96122226G>T GRCh37
NC_000005.8:g.96147982G>T NCBI36
NG_027839.1:g.32623C>A
NG_027839.2:g.154462C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000443439.7:c.1707C>A MANE Select ENSP00000406304.2:p.Phe569Leu
ENST00000296754.7:c.1707C>A ENSP00000296754.3:p.Phe569Leu
ENST00000443439.6:c.1707C>A ENSP00000406304.2:p.Phe569Leu
ENST00000507859.1:n.370C>A
ENST00000514604.5:n.131C>A
NM_001040458.1:c.1707C>A NP_001035548.1:p.Phe569Leu
NM_001198541.1:c.1707C>A NP_001185470.1:p.Phe569Leu
NM_016442.3:c.1707C>A NP_057526.3:p.Phe569Leu
XM_005272015.3:c.1707C>A XP_005272072.1:p.Phe569Leu
XM_005272016.3:c.1707C>A XP_005272073.1:p.Phe569Leu
XM_011543480.1:c.1707C>A XP_011541782.1:p.Phe569Leu
XM_011543481.1:c.1707C>A XP_011541783.1:p.Phe569Leu
XM_011543482.1:c.1707C>A XP_011541784.1:p.Phe569Leu
XM_011543483.1:c.1707C>A XP_011541785.1:p.Phe569Leu
XM_011543484.1:c.1707C>A XP_011541786.1:p.Phe569Leu
XM_011543485.1:c.1707C>A XP_011541787.1:p.Phe569Leu
XM_011543486.1:c.1707C>A XP_011541788.1:p.Phe569Leu
XM_011543487.1:c.1707C>A XP_011541789.1:p.Phe569Leu
NM_001040458.2:c.1707C>A NP_001035548.1:p.Phe569Leu
NM_001198541.2:c.1707C>A NP_001185470.1:p.Phe569Leu
NM_001349244.1:c.1707C>A NP_001336173.1:p.Phe569Leu
NM_016442.4:c.1707C>A NP_057526.3:p.Phe569Leu
XM_005272015.5:c.1707C>A XP_005272072.1:p.Phe569Leu
XM_005272016.4:c.1707C>A XP_005272073.1:p.Phe569Leu
XM_011543480.2:c.1707C>A XP_011541782.1:p.Phe569Leu
XM_011543481.2:c.1707C>A XP_011541783.1:p.Phe569Leu
XM_011543484.2:c.1707C>A XP_011541786.1:p.Phe569Leu
XM_011543485.2:c.1707C>A XP_011541787.1:p.Phe569Leu
XM_011543486.3:c.1707C>A XP_011541788.1:p.Phe569Leu
XM_017009581.1:c.1707C>A XP_016865070.1:p.Phe569Leu
XM_017009583.2:c.612C>A XP_016865072.1:p.Phe204Leu
XM_024446113.1:c.1707C>A XP_024301881.1:p.Phe569Leu
XR_001742119.2:n.1845C>A
NM_001040458.3:c.1707C>A MANE Select NP_001035548.1:p.Phe569Leu
NM_001198541.3:c.1707C>A NP_001185470.1:p.Phe569Leu
NM_001349244.2:c.1707C>A NP_001336173.1:p.Phe569Leu
NM_016442.5:c.1707C>A NP_057526.3:p.Phe569Leu