Canonical Allele Identifier: CA369273320

Gene: CPA5

Linked Data

• gnomAD v4: 7-130363459-T-A
• MyVariant Identifiers: chr7:g.130003300T>A (hg19) ; chr7:g.130363459T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130363459T>A , CM000669.2:g.130363459T>A	GRCh38
NC_000007.13:g.130003300T>A , CM000669.1:g.130003300T>A	GRCh37
NC_000007.12:g.129790536T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474905.6:c.788T>A MANE Select	ENSP00000417314.1:p.Ile263Asn
ENST00000393213.7:c.788T>A	ENSP00000376907.3:p.Ile263Asn
ENST00000431780.6:c.788T>A	ENSP00000393045.2:p.Ile263Asn
ENST00000461828.5:c.788T>A	ENSP00000418183.1:p.Ile263Asn
ENST00000466363.6:c.788T>A	ENSP00000419025.2:p.Ile263Asn
ENST00000474905.5:c.788T>A	ENSP00000417314.1:p.Ile263Asn
ENST00000479492.1:c.19T>A
ENST00000485477.5:c.788T>A	ENSP00000420237.1:p.Ile263Asn
ENST00000495736.1:n.1010T>A
NM_001127441.1:c.788T>A	NP_001120913.1:p.Ile263Asn
NM_001127442.1:c.788T>A	NP_001120914.1:p.Ile263Asn
NM_080385.4:c.788T>A	NP_525124.3:p.Ile263Asn
XM_005250710.1:c.788T>A	XP_005250767.1:p.Ile263Asn
XM_005250711.1:c.788T>A	XP_005250768.1:p.Ile263Asn
XM_005250712.1:c.788T>A	XP_005250769.1:p.Ile263Asn
XM_011516698.1:c.788T>A	XP_011515000.1:p.Ile263Asn
XM_011516699.1:c.788T>A	XP_011515001.1:p.Ile263Asn
XM_011516700.1:c.788T>A	XP_011515002.1:p.Ile263Asn
XM_011516701.1:c.788T>A	XP_011515003.1:p.Ile263Asn
XM_011516702.1:c.788T>A	XP_011515004.1:p.Ile263Asn
XM_011516703.1:c.788T>A	XP_011515005.1:p.Ile263Asn
XM_011516704.1:c.788T>A	XP_011515006.1:p.Ile263Asn
XM_011516705.1:c.788T>A	XP_011515007.1:p.Ile263Asn
XR_927548.1:n.1987T>A
XR_927549.1:n.1987T>A
XR_927550.1:n.1987T>A
XR_927551.1:n.1987T>A
NM_001318223.1:c.788T>A	NP_001305152.1:p.Ile263Asn
XM_024446999.1:c.788T>A	XP_024302767.1:p.Ile263Asn
XM_024447000.1:c.788T>A	XP_024302768.1:p.Ile263Asn
XM_024447001.1:c.788T>A	XP_024302769.1:p.Ile263Asn
NM_001127441.2:c.788T>A	NP_001120913.1:p.Ile263Asn
NM_001127442.2:c.788T>A	NP_001120914.1:p.Ile263Asn
NM_001318223.2:c.788T>A	NP_001305152.1:p.Ile263Asn
NM_080385.5:c.788T>A MANE Select	NP_525124.3:p.Ile263Asn