Canonical Allele Identifier: CA4137332

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4784302C>T , CM000669.2:g.4784302C>T	GRCh38
NC_000007.13:g.4823933C>T , CM000669.1:g.4823933C>T	GRCh37
NC_000007.12:g.4790459C>T	NCBI36
NG_028111.1:g.13672C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.721C>T MANE Select	NP_055670.1:p.Gln241Ter
ENST00000649063.2:c.721C>T MANE Select	ENSP00000497815.1:p.Gln241Ter
NM_001364858.1:c.253C>T	NP_001351787.1:p.Gln85Ter
NM_014855.2:c.721C>T	NP_055670.1:p.Gln241Ter
NR_157345.1:n.814C>T
ENST00000348624.4:c.721C>T	ENSP00000297562.4:p.Gln241Ter
ENST00000477680.5:n.479C>T
ENST00000477680.6:n.479C>T
ENST00000491375.1:n.576C>T
ENST00000496303.5:n.785C>T
ENST00000496303.6:n.549C>T
ENST00000647628.1:n.212C>T
ENST00000647984.1:c.*66C>T	ENSP00000497794.1:n.*66C>T
ENST00000648925.1:c.721C>T	ENSP00000496830.1:p.Gln241Ter
ENST00000650310.1:c.721C>T	ENSP00000497395.1:p.Gln241Ter
ENST00000650451.1:c.*66C>T	ENSP00000496998.1:n.*66C>T
XR_242109.1:n.746C>T