Canonical Allele Identifier: CA3352110

Gene: ERAP1

Linked Data

• ClinVar Variation Id: 715716
• ClinVar RCV Id: RCV000888229
• dbSNP Id: rs76598089
• ExAC: 5:96121497 G / A
• gnomAD v2: 5-96121497-G-A
• gnomAD v3: 5-96785793-G-A
• gnomAD v4: 5-96785793-G-A
• MyVariant Identifiers: chr5:g.96121497G>A (hg19) ; chr5:g.96785793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96785793G>A , CM000667.2:g.96785793G>A	GRCh38
NC_000005.9:g.96121497G>A , CM000667.1:g.96121497G>A	GRCh37
NC_000005.8:g.96147253G>A	NCBI36
NG_027839.1:g.33352C>T
NG_027839.2:g.155191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443439.7:c.1938C>T MANE Select	ENSP00000406304.2:p.Leu646=
ENST00000296754.7:c.1938C>T	ENSP00000296754.3:p.Leu646=
ENST00000443439.6:c.1938C>T	ENSP00000406304.2:p.Leu646=
ENST00000507859.1:n.601C>T
ENST00000514604.5:n.362C>T
NM_001040458.1:c.1938C>T	NP_001035548.1:p.Leu646=
NM_001198541.1:c.1938C>T	NP_001185470.1:p.Leu646=
NM_016442.3:c.1938C>T	NP_057526.3:p.Leu646=
XM_005272015.3:c.1938C>T	XP_005272072.1:p.Leu646=
XM_005272016.3:c.1938C>T	XP_005272073.1:p.Leu646=
XM_011543480.1:c.1938C>T	XP_011541782.1:p.Leu646=
XM_011543481.1:c.1938C>T	XP_011541783.1:p.Leu646=
XM_011543482.1:c.1938C>T	XP_011541784.1:p.Leu646=
XM_011543483.1:c.1938C>T	XP_011541785.1:p.Leu646=
XM_011543484.1:c.1938C>T	XP_011541786.1:p.Leu646=
XM_011543485.1:c.1938C>T	XP_011541787.1:p.Leu646=
XM_011543486.1:c.1938C>T	XP_011541788.1:p.Leu646=
XM_011543487.1:c.1938C>T	XP_011541789.1:p.Leu646=
NM_001040458.2:c.1938C>T	NP_001035548.1:p.Leu646=
NM_001198541.2:c.1938C>T	NP_001185470.1:p.Leu646=
NM_001349244.1:c.1938C>T	NP_001336173.1:p.Leu646=
NM_016442.4:c.1938C>T	NP_057526.3:p.Leu646=
XM_005272015.5:c.1938C>T	XP_005272072.1:p.Leu646=
XM_005272016.4:c.1938C>T	XP_005272073.1:p.Leu646=
XM_011543480.2:c.1938C>T	XP_011541782.1:p.Leu646=
XM_011543481.2:c.1938C>T	XP_011541783.1:p.Leu646=
XM_011543484.2:c.1938C>T	XP_011541786.1:p.Leu646=
XM_011543485.2:c.1938C>T	XP_011541787.1:p.Leu646=
XM_011543486.3:c.1938C>T	XP_011541788.1:p.Leu646=
XM_017009581.1:c.1938C>T	XP_016865070.1:p.Leu646=
XM_017009583.2:c.843C>T	XP_016865072.1:p.Leu281=
XM_024446113.1:c.1938C>T	XP_024301881.1:p.Leu646=
XR_001742119.2:n.2076C>T
XR_001742445.1:n.3750G>A
XR_001742446.1:n.1513G>A
NM_001040458.3:c.1938C>T MANE Select	NP_001035548.1:p.Leu646=
NM_001198541.3:c.1938C>T	NP_001185470.1:p.Leu646=
NM_001349244.2:c.1938C>T	NP_001336173.1:p.Leu646=
NM_016442.5:c.1938C>T	NP_057526.3:p.Leu646=