Canonical Allele Identifier: CA371260641

Gene: CPA6 ARFGEF1-DT

Linked Data

• gnomAD v4: 8-67483716-G-T
• MyVariant Identifiers: chr8:g.68395951G>T (hg19) ; chr8:g.67483716G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67483716G>T , CM000670.2:g.67483716G>T	GRCh38
NC_000008.10:g.68395951G>T , CM000670.1:g.68395951G>T	GRCh37
NC_000008.9:g.68558505G>T	NCBI36
NG_027682.1:g.267670C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297770.10:c.838+52C>A (CPA6) MANE Select	ENSP00000297770.4:n.838+52C>A
ENST00000638254.1:c.*434+52C>A (CPA6)	ENSP00000491129.1:n.*434+52C>A
ENST00000297770.8:c.838+52C>A (CPA6)	ENSP00000297770.4:n.838+52C>A
ENST00000479862.6:c.*434+52C>A (CPA6)	ENSP00000419016.2:n.*434+52C>A
ENST00000518549.1:c.890C>A (CPA6)	ENSP00000431112.1:p.Thr297Asn
NM_020361.4:c.838+52C>A (CPA6)	NP_065094.3:n.838+52C>A
XM_011517569.1:c.931+52C>A (CPA6)	XP_011515871.1:n.931+52C>A
XM_011517570.1:c.394+52C>A (CPA6)	XP_011515872.1:n.394+52C>A
NR_136224.1:n.694-7249G>T (ARFGEF1-DT)
XM_011517570.2:c.394+52C>A (CPA6)	XP_011515872.1:n.394+52C>A
XM_017013646.1:c.394+52C>A (CPA6)	XP_016869135.1:n.394+52C>A
XR_001745565.1:n.1646+52C>A (CPA6)
NM_020361.5:c.838+52C>A (CPA6) MANE Select	NP_065094.3:n.838+52C>A