Canonical Allele Identifier: CA360489507

Gene: ERAP1

Linked Data

• dbSNP Id: rs867003965
• gnomAD v2: 5-96122226-G-C
• gnomAD v4: 5-96786522-G-C
• MyVariant Identifiers: chr5:g.96122226G>C (hg19) ; chr5:g.96786522G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96786522G>C , CM000667.2:g.96786522G>C	GRCh38
NC_000005.9:g.96122226G>C , CM000667.1:g.96122226G>C	GRCh37
NC_000005.8:g.96147982G>C	NCBI36
NG_027839.1:g.32623C>G
NG_027839.2:g.154462C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443439.7:c.1707C>G MANE Select	ENSP00000406304.2:p.Phe569Leu
ENST00000296754.7:c.1707C>G	ENSP00000296754.3:p.Phe569Leu
ENST00000443439.6:c.1707C>G	ENSP00000406304.2:p.Phe569Leu
ENST00000507859.1:n.370C>G
ENST00000514604.5:n.131C>G
NM_001040458.1:c.1707C>G	NP_001035548.1:p.Phe569Leu
NM_001198541.1:c.1707C>G	NP_001185470.1:p.Phe569Leu
NM_016442.3:c.1707C>G	NP_057526.3:p.Phe569Leu
XM_005272015.3:c.1707C>G	XP_005272072.1:p.Phe569Leu
XM_005272016.3:c.1707C>G	XP_005272073.1:p.Phe569Leu
XM_011543480.1:c.1707C>G	XP_011541782.1:p.Phe569Leu
XM_011543481.1:c.1707C>G	XP_011541783.1:p.Phe569Leu
XM_011543482.1:c.1707C>G	XP_011541784.1:p.Phe569Leu
XM_011543483.1:c.1707C>G	XP_011541785.1:p.Phe569Leu
XM_011543484.1:c.1707C>G	XP_011541786.1:p.Phe569Leu
XM_011543485.1:c.1707C>G	XP_011541787.1:p.Phe569Leu
XM_011543486.1:c.1707C>G	XP_011541788.1:p.Phe569Leu
XM_011543487.1:c.1707C>G	XP_011541789.1:p.Phe569Leu
NM_001040458.2:c.1707C>G	NP_001035548.1:p.Phe569Leu
NM_001198541.2:c.1707C>G	NP_001185470.1:p.Phe569Leu
NM_001349244.1:c.1707C>G	NP_001336173.1:p.Phe569Leu
NM_016442.4:c.1707C>G	NP_057526.3:p.Phe569Leu
XM_005272015.5:c.1707C>G	XP_005272072.1:p.Phe569Leu
XM_005272016.4:c.1707C>G	XP_005272073.1:p.Phe569Leu
XM_011543480.2:c.1707C>G	XP_011541782.1:p.Phe569Leu
XM_011543481.2:c.1707C>G	XP_011541783.1:p.Phe569Leu
XM_011543484.2:c.1707C>G	XP_011541786.1:p.Phe569Leu
XM_011543485.2:c.1707C>G	XP_011541787.1:p.Phe569Leu
XM_011543486.3:c.1707C>G	XP_011541788.1:p.Phe569Leu
XM_017009581.1:c.1707C>G	XP_016865070.1:p.Phe569Leu
XM_017009583.2:c.612C>G	XP_016865072.1:p.Phe204Leu
XM_024446113.1:c.1707C>G	XP_024301881.1:p.Phe569Leu
XR_001742119.2:n.1845C>G
NM_001040458.3:c.1707C>G MANE Select	NP_001035548.1:p.Phe569Leu
NM_001198541.3:c.1707C>G	NP_001185470.1:p.Phe569Leu
NM_001349244.2:c.1707C>G	NP_001336173.1:p.Phe569Leu
NM_016442.5:c.1707C>G	NP_057526.3:p.Phe569Leu