Canonical Allele Identifier: CA3352141
Gene: ERAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 784055
ClinVar RCV Id: RCV000965690
dbSNP Id: rs114703312
gnomAD v2: 5-96121672-A-C
gnomAD v3: 5-96785968-A-C
gnomAD v4: 5-96785968-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96785968A>C , CM000667.2:g.96785968A>C GRCh38
NC_000005.9:g.96121672A>C , CM000667.1:g.96121672A>C GRCh37
NC_000005.8:g.96147428A>C NCBI36
NG_027839.1:g.33177T>G
NG_027839.2:g.155016T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000443439.7:c.1763T>G MANE Select ENSP00000406304.2:p.Val588Gly
ENST00000296754.7:c.1763T>G ENSP00000296754.3:p.Val588Gly
ENST00000443439.6:c.1763T>G ENSP00000406304.2:p.Val588Gly
ENST00000507859.1:n.426T>G
ENST00000514604.5:n.187T>G
NM_001040458.1:c.1763T>G NP_001035548.1:p.Val588Gly
NM_001198541.1:c.1763T>G NP_001185470.1:p.Val588Gly
NM_016442.3:c.1763T>G NP_057526.3:p.Val588Gly
XM_005272015.3:c.1763T>G XP_005272072.1:p.Val588Gly
XM_005272016.3:c.1763T>G XP_005272073.1:p.Val588Gly
XM_011543480.1:c.1763T>G XP_011541782.1:p.Val588Gly
XM_011543481.1:c.1763T>G XP_011541783.1:p.Val588Gly
XM_011543482.1:c.1763T>G XP_011541784.1:p.Val588Gly
XM_011543483.1:c.1763T>G XP_011541785.1:p.Val588Gly
XM_011543484.1:c.1763T>G XP_011541786.1:p.Val588Gly
XM_011543485.1:c.1763T>G XP_011541787.1:p.Val588Gly
XM_011543486.1:c.1763T>G XP_011541788.1:p.Val588Gly
XM_011543487.1:c.1763T>G XP_011541789.1:p.Val588Gly
NM_001040458.2:c.1763T>G NP_001035548.1:p.Val588Gly
NM_001198541.2:c.1763T>G NP_001185470.1:p.Val588Gly
NM_001349244.1:c.1763T>G NP_001336173.1:p.Val588Gly
NM_016442.4:c.1763T>G NP_057526.3:p.Val588Gly
XM_005272015.5:c.1763T>G XP_005272072.1:p.Val588Gly
XM_005272016.4:c.1763T>G XP_005272073.1:p.Val588Gly
XM_011543480.2:c.1763T>G XP_011541782.1:p.Val588Gly
XM_011543481.2:c.1763T>G XP_011541783.1:p.Val588Gly
XM_011543484.2:c.1763T>G XP_011541786.1:p.Val588Gly
XM_011543485.2:c.1763T>G XP_011541787.1:p.Val588Gly
XM_011543486.3:c.1763T>G XP_011541788.1:p.Val588Gly
XM_017009581.1:c.1763T>G XP_016865070.1:p.Val588Gly
XM_017009583.2:c.668T>G XP_016865072.1:p.Val223Gly
XM_024446113.1:c.1763T>G XP_024301881.1:p.Val588Gly
XR_001742119.2:n.1901T>G
XR_001742445.1:n.3925A>C
XR_001742446.1:n.1688A>C
NM_001040458.3:c.1763T>G MANE Select NP_001035548.1:p.Val588Gly
NM_001198541.3:c.1763T>G NP_001185470.1:p.Val588Gly
NM_001349244.2:c.1763T>G NP_001336173.1:p.Val588Gly
NM_016442.5:c.1763T>G NP_057526.3:p.Val588Gly