Canonical Allele Identifier: CA11937505

Linked Data

dbSNP Id: rs13160562
gnomAD v2: 5-96111371-G-A
gnomAD v3: 5-96775667-G-A
gnomAD v4: 5-96775667-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96775667G>A , CM000667.2:g.96775667G>A GRCh38
NC_000005.9:g.96111371G>A , CM000667.1:g.96111371G>A GRCh37
NC_000005.8:g.96137127G>A NCBI36
NG_027839.1:g.43478C>T
NG_029490.1:g.118631G>A
NG_027839.2:g.165317C>T
NG_029490.2:g.118631G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000443439.7:c.*729C>T (ERAP1) MANE Select ENSP00000406304.2:n.*729C>T
ENST00000296754.7:c.2818+737C>T (ERAP1) ENSP00000296754.3:n.2818+737C>T
ENST00000443439.6:c.*729C>T (ERAP1) ENSP00000406304.2:n.*729C>T
ENST00000510098.1:c.963-1201G>A (CAST) ENSP00000427195.1:n.963-1201G>A
NM_001040458.1:c.*729C>T (ERAP1) NP_001035548.1:n.*729C>T
NM_001198541.1:c.*729C>T (ERAP1) NP_001185470.1:n.*729C>T
NM_016442.3:c.2818+737C>T (ERAP1) NP_057526.3:n.2818+737C>T
XM_005272015.3:c.2818+737C>T (ERAP1) XP_005272072.1:n.2818+737C>T
XM_005272016.3:c.2818+737C>T (ERAP1) XP_005272073.1:n.2818+737C>T
XM_011543480.1:c.2818+737C>T (ERAP1) XP_011541782.1:n.2818+737C>T
XM_011543481.1:c.2818+737C>T (ERAP1) XP_011541783.1:n.2818+737C>T
XM_011543482.1:c.2818+737C>T (ERAP1) XP_011541784.1:n.2818+737C>T
XM_011543483.1:c.2818+737C>T (ERAP1) XP_011541785.1:n.2818+737C>T
XM_011543484.1:c.2818+737C>T (ERAP1) XP_011541786.1:n.2818+737C>T
XM_011543485.1:c.2818+737C>T (ERAP1) XP_011541787.1:n.2818+737C>T
XM_011543486.1:c.*729C>T (ERAP1) XP_011541788.1:n.*729C>T
XM_011543487.1:c.2818+737C>T (ERAP1) XP_011541789.1:n.2818+737C>T
NM_001040458.2:c.*729C>T (ERAP1) NP_001035548.1:n.*729C>T
NM_001198541.2:c.*729C>T (ERAP1) NP_001185470.1:n.*729C>T
NM_001349244.1:c.2818+737C>T (ERAP1) NP_001336173.1:n.2818+737C>T
NM_016442.4:c.2818+737C>T (ERAP1) NP_057526.3:n.2818+737C>T
XM_005272015.5:c.2818+737C>T (ERAP1) XP_005272072.1:n.2818+737C>T
XM_005272016.4:c.2818+737C>T (ERAP1) XP_005272073.1:n.2818+737C>T
XM_011543480.2:c.2818+737C>T (ERAP1) XP_011541782.1:n.2818+737C>T
XM_011543481.2:c.2818+737C>T (ERAP1) XP_011541783.1:n.2818+737C>T
XM_011543484.2:c.2818+737C>T (ERAP1) XP_011541786.1:n.2818+737C>T
XM_011543485.2:c.2818+737C>T (ERAP1) XP_011541787.1:n.2818+737C>T
XM_011543486.3:c.*729C>T (ERAP1) XP_011541788.1:n.*729C>T
XM_017009581.1:c.2818+737C>T (ERAP1) XP_016865070.1:n.2818+737C>T
XM_017009583.2:c.1723+737C>T (ERAP1) XP_016865072.1:n.1723+737C>T
XM_024446113.1:c.2818+737C>T (ERAP1) XP_024301881.1:n.2818+737C>T
XR_001742119.2:n.2956+737C>T (ERAP1)
NM_001040458.3:c.*729C>T (ERAP1) MANE Select NP_001035548.1:n.*729C>T
NM_001198541.3:c.*729C>T (ERAP1) NP_001185470.1:n.*729C>T
NM_001349244.2:c.2818+737C>T (ERAP1) NP_001336173.1:n.2818+737C>T
NM_016442.5:c.2818+737C>T (ERAP1) NP_057526.3:n.2818+737C>T