Canonical Allele Identifier: CA360495266
Gene: ERAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1361465647
gnomAD v2: 5-96139109-A-G
gnomAD v3: 5-96803406-A-G
gnomAD v4: 5-96803406-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96803406A>G , CM000667.2:g.96803406A>G GRCh38
NC_000005.9:g.96139109A>G , CM000667.1:g.96139109A>G GRCh37
NC_000005.8:g.96164865A>G NCBI36
NG_027839.1:g.15740T>C
NG_027839.2:g.137578T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000443439.7:c.521T>C MANE Select ENSP00000406304.2:p.Leu174Pro
ENST00000296754.7:c.521T>C ENSP00000296754.3:p.Leu174Pro
ENST00000443439.6:c.521T>C ENSP00000406304.2:p.Leu174Pro
ENST00000503921.5:c.-64T>C ENSP00000427025.1:n.-64T>C
ENST00000508227.5:c.-44T>C ENSP00000422631.1:n.-44T>C
NM_001040458.1:c.521T>C NP_001035548.1:p.Leu174Pro
NM_001198541.1:c.521T>C NP_001185470.1:p.Leu174Pro
NM_016442.3:c.521T>C NP_057526.3:p.Leu174Pro
XM_005272015.3:c.521T>C XP_005272072.1:p.Leu174Pro
XM_005272016.3:c.521T>C XP_005272073.1:p.Leu174Pro
XM_011543480.1:c.521T>C XP_011541782.1:p.Leu174Pro
XM_011543481.1:c.521T>C XP_011541783.1:p.Leu174Pro
XM_011543482.1:c.521T>C XP_011541784.1:p.Leu174Pro
XM_011543483.1:c.521T>C XP_011541785.1:p.Leu174Pro
XM_011543484.1:c.521T>C XP_011541786.1:p.Leu174Pro
XM_011543485.1:c.521T>C XP_011541787.1:p.Leu174Pro
XM_011543486.1:c.521T>C XP_011541788.1:p.Leu174Pro
XM_011543487.1:c.521T>C XP_011541789.1:p.Leu174Pro
NM_001040458.2:c.521T>C NP_001035548.1:p.Leu174Pro
NM_001198541.2:c.521T>C NP_001185470.1:p.Leu174Pro
NM_001349244.1:c.521T>C NP_001336173.1:p.Leu174Pro
NM_016442.4:c.521T>C NP_057526.3:p.Leu174Pro
XM_005272015.5:c.521T>C XP_005272072.1:p.Leu174Pro
XM_005272016.4:c.521T>C XP_005272073.1:p.Leu174Pro
XM_011543480.2:c.521T>C XP_011541782.1:p.Leu174Pro
XM_011543481.2:c.521T>C XP_011541783.1:p.Leu174Pro
XM_011543484.2:c.521T>C XP_011541786.1:p.Leu174Pro
XM_011543485.2:c.521T>C XP_011541787.1:p.Leu174Pro
XM_011543486.3:c.521T>C XP_011541788.1:p.Leu174Pro
XM_017009581.1:c.521T>C XP_016865070.1:p.Leu174Pro
XM_017009583.2:c.-522T>C XP_016865072.1:n.-522T>C
XM_024446113.1:c.521T>C XP_024301881.1:p.Leu174Pro
XR_001742119.2:n.814T>C
NM_001040458.3:c.521T>C MANE Select NP_001035548.1:p.Leu174Pro
NM_001198541.3:c.521T>C NP_001185470.1:p.Leu174Pro
NM_001349244.2:c.521T>C NP_001336173.1:p.Leu174Pro
NM_016442.5:c.521T>C NP_057526.3:p.Leu174Pro