Canonical Allele Identifier: CA3351989

Gene: ERAP1

Linked Data

• dbSNP Id: rs766054149
• ExAC: 5:96118767 T / A
• gnomAD v2: 5-96118767-T-A
• gnomAD v4: 5-96783063-T-A
• MyVariant Identifiers: chr5:g.96118767T>A (hg19) ; chr5:g.96783063T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96783063T>A , CM000667.2:g.96783063T>A	GRCh38
NC_000005.9:g.96118767T>A , CM000667.1:g.96118767T>A	GRCh37
NC_000005.8:g.96144523T>A	NCBI36
NG_027839.1:g.36082A>T
NG_027839.2:g.157921A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000443439.7:c.2273A>T MANE Select	ENSP00000406304.2:p.Asn758Ile
ENST00000296754.7:c.2273A>T	ENSP00000296754.3:p.Asn758Ile
ENST00000443439.6:c.2273A>T	ENSP00000406304.2:p.Asn758Ile
ENST00000514604.5:n.697A>T
NM_001040458.1:c.2273A>T	NP_001035548.1:p.Asn758Ile
NM_001198541.1:c.2273A>T	NP_001185470.1:p.Asn758Ile
NM_016442.3:c.2273A>T	NP_057526.3:p.Asn758Ile
XM_005272015.3:c.2273A>T	XP_005272072.1:p.Asn758Ile
XM_005272016.3:c.2273A>T	XP_005272073.1:p.Asn758Ile
XM_011543480.1:c.2273A>T	XP_011541782.1:p.Asn758Ile
XM_011543481.1:c.2273A>T	XP_011541783.1:p.Asn758Ile
XM_011543482.1:c.2273A>T	XP_011541784.1:p.Asn758Ile
XM_011543483.1:c.2273A>T	XP_011541785.1:p.Asn758Ile
XM_011543484.1:c.2273A>T	XP_011541786.1:p.Asn758Ile
XM_011543485.1:c.2273A>T	XP_011541787.1:p.Asn758Ile
XM_011543486.1:c.2273A>T	XP_011541788.1:p.Asn758Ile
XM_011543487.1:c.2273A>T	XP_011541789.1:p.Asn758Ile
XR_427744.2:n.89+1188T>A
XR_948592.1:n.89+1188T>A
XR_948593.1:n.398-1943T>A
XR_948594.1:n.71+1170T>A
XR_948595.1:n.398-1943T>A
NM_001040458.2:c.2273A>T	NP_001035548.1:p.Asn758Ile
NM_001198541.2:c.2273A>T	NP_001185470.1:p.Asn758Ile
NM_001349244.1:c.2273A>T	NP_001336173.1:p.Asn758Ile
NM_016442.4:c.2273A>T	NP_057526.3:p.Asn758Ile
XM_005272015.5:c.2273A>T	XP_005272072.1:p.Asn758Ile
XM_005272016.4:c.2273A>T	XP_005272073.1:p.Asn758Ile
XM_011543480.2:c.2273A>T	XP_011541782.1:p.Asn758Ile
XM_011543481.2:c.2273A>T	XP_011541783.1:p.Asn758Ile
XM_011543484.2:c.2273A>T	XP_011541786.1:p.Asn758Ile
XM_011543485.2:c.2273A>T	XP_011541787.1:p.Asn758Ile
XM_011543486.3:c.2273A>T	XP_011541788.1:p.Asn758Ile
XM_017009581.1:c.2273A>T	XP_016865070.1:p.Asn758Ile
XM_017009583.2:c.1178A>T	XP_016865072.1:p.Asn393Ile
XM_024446113.1:c.2273A>T	XP_024301881.1:p.Asn758Ile
XR_001742119.2:n.2411A>T
XR_001742445.1:n.2962+1188T>A
XR_001742446.1:n.725+1188T>A
NM_001040458.3:c.2273A>T MANE Select	NP_001035548.1:p.Asn758Ile
NM_001198541.3:c.2273A>T	NP_001185470.1:p.Asn758Ile
NM_001349244.2:c.2273A>T	NP_001336173.1:p.Asn758Ile
NM_016442.5:c.2273A>T	NP_057526.3:p.Asn758Ile