Canonical Allele Identifier: CA122976089

Gene: ERAP1

Linked Data

• dbSNP Id: rs935308859
• gnomAD v2: 5-96139164-A-G
• gnomAD v3: 5-96803461-A-G
• gnomAD v4: 5-96803461-A-G
• MyVariant Identifiers: chr5:g.96139164A>G (hg19) ; chr5:g.96803461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96803461A>G , CM000667.2:g.96803461A>G	GRCh38
NC_000005.9:g.96139164A>G , CM000667.1:g.96139164A>G	GRCh37
NC_000005.8:g.96164920A>G	NCBI36
NG_027839.1:g.15685T>C
NG_027839.2:g.137523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443439.7:c.466T>C MANE Select	ENSP00000406304.2:p.Ser156Pro
ENST00000296754.7:c.466T>C	ENSP00000296754.3:p.Ser156Pro
ENST00000443439.6:c.466T>C	ENSP00000406304.2:p.Ser156Pro
ENST00000503921.5:c.-119T>C	ENSP00000427025.1:n.-119T>C
ENST00000508227.5:c.-99T>C	ENSP00000422631.1:n.-99T>C
NM_001040458.1:c.466T>C	NP_001035548.1:p.Ser156Pro
NM_001198541.1:c.466T>C	NP_001185470.1:p.Ser156Pro
NM_016442.3:c.466T>C	NP_057526.3:p.Ser156Pro
XM_005272015.3:c.466T>C	XP_005272072.1:p.Ser156Pro
XM_005272016.3:c.466T>C	XP_005272073.1:p.Ser156Pro
XM_011543480.1:c.466T>C	XP_011541782.1:p.Ser156Pro
XM_011543481.1:c.466T>C	XP_011541783.1:p.Ser156Pro
XM_011543482.1:c.466T>C	XP_011541784.1:p.Ser156Pro
XM_011543483.1:c.466T>C	XP_011541785.1:p.Ser156Pro
XM_011543484.1:c.466T>C	XP_011541786.1:p.Ser156Pro
XM_011543485.1:c.466T>C	XP_011541787.1:p.Ser156Pro
XM_011543486.1:c.466T>C	XP_011541788.1:p.Ser156Pro
XM_011543487.1:c.466T>C	XP_011541789.1:p.Ser156Pro
NM_001040458.2:c.466T>C	NP_001035548.1:p.Ser156Pro
NM_001198541.2:c.466T>C	NP_001185470.1:p.Ser156Pro
NM_001349244.1:c.466T>C	NP_001336173.1:p.Ser156Pro
NM_016442.4:c.466T>C	NP_057526.3:p.Ser156Pro
XM_005272015.5:c.466T>C	XP_005272072.1:p.Ser156Pro
XM_005272016.4:c.466T>C	XP_005272073.1:p.Ser156Pro
XM_011543480.2:c.466T>C	XP_011541782.1:p.Ser156Pro
XM_011543481.2:c.466T>C	XP_011541783.1:p.Ser156Pro
XM_011543484.2:c.466T>C	XP_011541786.1:p.Ser156Pro
XM_011543485.2:c.466T>C	XP_011541787.1:p.Ser156Pro
XM_011543486.3:c.466T>C	XP_011541788.1:p.Ser156Pro
XM_017009581.1:c.466T>C	XP_016865070.1:p.Ser156Pro
XM_017009583.2:c.-577T>C	XP_016865072.1:n.-577T>C
XM_024446113.1:c.466T>C	XP_024301881.1:p.Ser156Pro
XR_001742119.2:n.759T>C
NM_001040458.3:c.466T>C MANE Select	NP_001035548.1:p.Ser156Pro
NM_001198541.3:c.466T>C	NP_001185470.1:p.Ser156Pro
NM_001349244.2:c.466T>C	NP_001336173.1:p.Ser156Pro
NM_016442.5:c.466T>C	NP_057526.3:p.Ser156Pro