Canonical Allele Identifier: CA371261278

Gene: CPA6

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.67506804G>A , CM000670.2:g.67506804G>A	GRCh38
NC_000008.10:g.68419039G>A , CM000670.1:g.68419039G>A	GRCh37
NC_000008.9:g.68581593G>A	NCBI36
NG_027682.1:g.244582C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020361.5:c.619C>T MANE Select	NP_065094.3:p.Gln207Ter
ENST00000297770.10:c.619C>T MANE Select	ENSP00000297770.4:p.Gln207Ter
NM_020361.4:c.619C>T	NP_065094.3:p.Gln207Ter
ENST00000297770.8:c.619C>T	ENSP00000297770.4:p.Gln207Ter
ENST00000479862.6:c.*215C>T	ENSP00000419016.2:n.*215C>T
ENST00000518549.1:c.619C>T	ENSP00000431112.1:p.Gln207Ter
ENST00000638254.1:c.*215C>T	ENSP00000491129.1:n.*215C>T
XM_011517569.1:c.619C>T	XP_011515871.1:p.Gln207Ter
XM_011517570.1:c.175C>T	XP_011515872.1:p.Gln59Ter
XM_011517570.2:c.175C>T	XP_011515872.1:p.Gln59Ter
XM_017013646.1:c.175C>T	XP_016869135.1:p.Gln59Ter
XM_017013647.1:c.619C>T	XP_016869136.1:p.Gln207Ter
XR_001745565.1:n.1427C>T