Canonical Allele Identifier: CA815915585

Gene: ERAP1 CAST

Linked Data

• dbSNP Id: rs1342240499
• gnomAD v3: 5-96775588-C-T
• gnomAD v4: 5-96775588-C-T
• MyVariant Identifiers: chr5:g.96111292C>T (hg19) ; chr5:g.96775588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96775588C>T , CM000667.2:g.96775588C>T	GRCh38
NC_000005.9:g.96111292C>T , CM000667.1:g.96111292C>T	GRCh37
NC_000005.8:g.96137048C>T	NCBI36
NG_027839.1:g.43557G>A
NG_029490.1:g.118552C>T
NG_027839.2:g.165396G>A
NG_029490.2:g.118552C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000443439.7:c.*808G>A (ERAP1) MANE Select	ENSP00000406304.2:n.*808G>A
ENST00000296754.7:c.2818+816G>A (ERAP1)	ENSP00000296754.3:n.2818+816G>A
ENST00000443439.6:c.*808G>A (ERAP1)	ENSP00000406304.2:n.*808G>A
ENST00000510098.1:c.963-1280C>T (CAST)	ENSP00000427195.1:n.963-1280C>T
NM_001040458.1:c.*808G>A (ERAP1)	NP_001035548.1:n.*808G>A
NM_001198541.1:c.*808G>A (ERAP1)	NP_001185470.1:n.*808G>A
NM_016442.3:c.2818+816G>A (ERAP1)	NP_057526.3:n.2818+816G>A
XM_005272015.3:c.2818+816G>A (ERAP1)	XP_005272072.1:n.2818+816G>A
XM_005272016.3:c.2818+816G>A (ERAP1)	XP_005272073.1:n.2818+816G>A
XM_011543480.1:c.2818+816G>A (ERAP1)	XP_011541782.1:n.2818+816G>A
XM_011543481.1:c.2818+816G>A (ERAP1)	XP_011541783.1:n.2818+816G>A
XM_011543482.1:c.2818+816G>A (ERAP1)	XP_011541784.1:n.2818+816G>A
XM_011543483.1:c.2818+816G>A (ERAP1)	XP_011541785.1:n.2818+816G>A
XM_011543484.1:c.2818+816G>A (ERAP1)	XP_011541786.1:n.2818+816G>A
XM_011543485.1:c.2818+816G>A (ERAP1)	XP_011541787.1:n.2818+816G>A
XM_011543486.1:c.*808G>A (ERAP1)	XP_011541788.1:n.*808G>A
XM_011543487.1:c.2818+816G>A (ERAP1)	XP_011541789.1:n.2818+816G>A
NM_001040458.2:c.*808G>A (ERAP1)	NP_001035548.1:n.*808G>A
NM_001198541.2:c.*808G>A (ERAP1)	NP_001185470.1:n.*808G>A
NM_001349244.1:c.2818+816G>A (ERAP1)	NP_001336173.1:n.2818+816G>A
NM_016442.4:c.2818+816G>A (ERAP1)	NP_057526.3:n.2818+816G>A
XM_005272015.5:c.2818+816G>A (ERAP1)	XP_005272072.1:n.2818+816G>A
XM_005272016.4:c.2818+816G>A (ERAP1)	XP_005272073.1:n.2818+816G>A
XM_011543480.2:c.2818+816G>A (ERAP1)	XP_011541782.1:n.2818+816G>A
XM_011543481.2:c.2818+816G>A (ERAP1)	XP_011541783.1:n.2818+816G>A
XM_011543484.2:c.2818+816G>A (ERAP1)	XP_011541786.1:n.2818+816G>A
XM_011543485.2:c.2818+816G>A (ERAP1)	XP_011541787.1:n.2818+816G>A
XM_011543486.3:c.*808G>A (ERAP1)	XP_011541788.1:n.*808G>A
XM_017009581.1:c.2818+816G>A (ERAP1)	XP_016865070.1:n.2818+816G>A
XM_017009583.2:c.1723+816G>A (ERAP1)	XP_016865072.1:n.1723+816G>A
XM_024446113.1:c.2818+816G>A (ERAP1)	XP_024301881.1:n.2818+816G>A
XR_001742119.2:n.2956+816G>A (ERAP1)
NM_001040458.3:c.*808G>A (ERAP1) MANE Select	NP_001035548.1:n.*808G>A
NM_001198541.3:c.*808G>A (ERAP1)	NP_001185470.1:n.*808G>A
NM_001349244.2:c.2818+816G>A (ERAP1)	NP_001336173.1:n.2818+816G>A
NM_016442.5:c.2818+816G>A (ERAP1)	NP_057526.3:n.2818+816G>A