Canonical Allele Identifier: CA15367637

Gene: ERAP1 CAST

Linked Data

• dbSNP Id: rs149481
• gnomAD v2: 5-96114346-A-C
• gnomAD v3: 5-96778642-A-C
• gnomAD v4: 5-96778642-A-C
• MyVariant Identifiers: chr5:g.96114346A>C (hg19) ; chr5:g.96778642A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96778642A>C , CM000667.2:g.96778642A>C	GRCh38
NC_000005.9:g.96114346A>C , CM000667.1:g.96114346A>C	GRCh37
NC_000005.8:g.96140102A>C	NCBI36
NG_027839.1:g.40503T>G
NG_027839.2:g.162342T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000443439.7:c.2670+1781T>G (ERAP1) MANE Select	ENSP00000406304.2:n.2670+1781T>G
ENST00000296754.7:c.2670+1781T>G (ERAP1)	ENSP00000296754.3:n.2670+1781T>G
ENST00000443439.6:c.2670+1781T>G (ERAP1)	ENSP00000406304.2:n.2670+1781T>G
ENST00000510098.1:c.1050-680A>C (CAST)	ENSP00000427195.1:n.1050-680A>C
ENST00000512852.1:c.206+1781T>G (ERAP1)
NM_001040458.1:c.2670+1781T>G (ERAP1)	NP_001035548.1:n.2670+1781T>G
NM_001198541.1:c.2670+1781T>G (ERAP1)	NP_001185470.1:n.2670+1781T>G
NM_016442.3:c.2670+1781T>G (ERAP1)	NP_057526.3:n.2670+1781T>G
XM_005272015.3:c.2670+1781T>G (ERAP1)	XP_005272072.1:n.2670+1781T>G
XM_005272016.3:c.2670+1781T>G (ERAP1)	XP_005272073.1:n.2670+1781T>G
XM_011543480.1:c.2670+1781T>G (ERAP1)	XP_011541782.1:n.2670+1781T>G
XM_011543481.1:c.2670+1781T>G (ERAP1)	XP_011541783.1:n.2670+1781T>G
XM_011543482.1:c.2670+1781T>G (ERAP1)	XP_011541784.1:n.2670+1781T>G
XM_011543483.1:c.2670+1781T>G (ERAP1)	XP_011541785.1:n.2670+1781T>G
XM_011543484.1:c.2670+1781T>G (ERAP1)	XP_011541786.1:n.2670+1781T>G
XM_011543485.1:c.2670+1781T>G (ERAP1)	XP_011541787.1:n.2670+1781T>G
XM_011543486.1:c.2670+1781T>G (ERAP1)	XP_011541788.1:n.2670+1781T>G
XM_011543487.1:c.2670+1781T>G (ERAP1)	XP_011541789.1:n.2670+1781T>G
XR_948593.1:n.397+1688A>C
XR_948595.1:n.397+1688A>C
NM_001040458.2:c.2670+1781T>G (ERAP1)	NP_001035548.1:n.2670+1781T>G
NM_001198541.2:c.2670+1781T>G (ERAP1)	NP_001185470.1:n.2670+1781T>G
NM_001349244.1:c.2670+1781T>G (ERAP1)	NP_001336173.1:n.2670+1781T>G
NM_016442.4:c.2670+1781T>G (ERAP1)	NP_057526.3:n.2670+1781T>G
XM_005272015.5:c.2670+1781T>G (ERAP1)	XP_005272072.1:n.2670+1781T>G
XM_005272016.4:c.2670+1781T>G (ERAP1)	XP_005272073.1:n.2670+1781T>G
XM_011543480.2:c.2670+1781T>G (ERAP1)	XP_011541782.1:n.2670+1781T>G
XM_011543481.2:c.2670+1781T>G (ERAP1)	XP_011541783.1:n.2670+1781T>G
XM_011543484.2:c.2670+1781T>G (ERAP1)	XP_011541786.1:n.2670+1781T>G
XM_011543485.2:c.2670+1781T>G (ERAP1)	XP_011541787.1:n.2670+1781T>G
XM_011543486.3:c.2670+1781T>G (ERAP1)	XP_011541788.1:n.2670+1781T>G
XM_017009581.1:c.2670+1781T>G (ERAP1)	XP_016865070.1:n.2670+1781T>G
XM_017009583.2:c.1575+1781T>G (ERAP1)	XP_016865072.1:n.1575+1781T>G
XM_024446113.1:c.2670+1781T>G (ERAP1)	XP_024301881.1:n.2670+1781T>G
XR_001742119.2:n.2808+1781T>G (ERAP1)
XR_001742445.1:n.409-680A>C
XR_001742446.1:n.408+1688A>C
NM_001040458.3:c.2670+1781T>G (ERAP1) MANE Select	NP_001035548.1:n.2670+1781T>G
NM_001198541.3:c.2670+1781T>G (ERAP1)	NP_001185470.1:n.2670+1781T>G
NM_001349244.2:c.2670+1781T>G (ERAP1)	NP_001336173.1:n.2670+1781T>G
NM_016442.5:c.2670+1781T>G (ERAP1)	NP_057526.3:n.2670+1781T>G