Canonical Allele Identifier: CA360495423

Gene: ERAP1

Linked Data

• ClinVar Variation Id: 3090039
• ClinVar RCV Id: RCV004380458
• MyVariant Identifiers: chr5:g.96139127C>T (hg19) ; chr5:g.96803424C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96803424C>T , CM000667.2:g.96803424C>T	GRCh38
NC_000005.9:g.96139127C>T , CM000667.1:g.96139127C>T	GRCh37
NC_000005.8:g.96164883C>T	NCBI36
NG_027839.1:g.15722G>A
NG_027839.2:g.137560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443439.7:c.503G>A MANE Select	ENSP00000406304.2:p.Arg168Lys
ENST00000296754.7:c.503G>A	ENSP00000296754.3:p.Arg168Lys
ENST00000443439.6:c.503G>A	ENSP00000406304.2:p.Arg168Lys
ENST00000503921.5:c.-82G>A	ENSP00000427025.1:n.-82G>A
ENST00000508227.5:c.-62G>A	ENSP00000422631.1:n.-62G>A
NM_001040458.1:c.503G>A	NP_001035548.1:p.Arg168Lys
NM_001198541.1:c.503G>A	NP_001185470.1:p.Arg168Lys
NM_016442.3:c.503G>A	NP_057526.3:p.Arg168Lys
XM_005272015.3:c.503G>A	XP_005272072.1:p.Arg168Lys
XM_005272016.3:c.503G>A	XP_005272073.1:p.Arg168Lys
XM_011543480.1:c.503G>A	XP_011541782.1:p.Arg168Lys
XM_011543481.1:c.503G>A	XP_011541783.1:p.Arg168Lys
XM_011543482.1:c.503G>A	XP_011541784.1:p.Arg168Lys
XM_011543483.1:c.503G>A	XP_011541785.1:p.Arg168Lys
XM_011543484.1:c.503G>A	XP_011541786.1:p.Arg168Lys
XM_011543485.1:c.503G>A	XP_011541787.1:p.Arg168Lys
XM_011543486.1:c.503G>A	XP_011541788.1:p.Arg168Lys
XM_011543487.1:c.503G>A	XP_011541789.1:p.Arg168Lys
NM_001040458.2:c.503G>A	NP_001035548.1:p.Arg168Lys
NM_001198541.2:c.503G>A	NP_001185470.1:p.Arg168Lys
NM_001349244.1:c.503G>A	NP_001336173.1:p.Arg168Lys
NM_016442.4:c.503G>A	NP_057526.3:p.Arg168Lys
XM_005272015.5:c.503G>A	XP_005272072.1:p.Arg168Lys
XM_005272016.4:c.503G>A	XP_005272073.1:p.Arg168Lys
XM_011543480.2:c.503G>A	XP_011541782.1:p.Arg168Lys
XM_011543481.2:c.503G>A	XP_011541783.1:p.Arg168Lys
XM_011543484.2:c.503G>A	XP_011541786.1:p.Arg168Lys
XM_011543485.2:c.503G>A	XP_011541787.1:p.Arg168Lys
XM_011543486.3:c.503G>A	XP_011541788.1:p.Arg168Lys
XM_017009581.1:c.503G>A	XP_016865070.1:p.Arg168Lys
XM_017009583.2:c.-540G>A	XP_016865072.1:n.-540G>A
XM_024446113.1:c.503G>A	XP_024301881.1:p.Arg168Lys
XR_001742119.2:n.796G>A
NM_001040458.3:c.503G>A MANE Select	NP_001035548.1:p.Arg168Lys
NM_001198541.3:c.503G>A	NP_001185470.1:p.Arg168Lys
NM_001349244.2:c.503G>A	NP_001336173.1:p.Arg168Lys
NM_016442.5:c.503G>A	NP_057526.3:p.Arg168Lys