Canonical Allele Identifier: CA4137441

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785011C>T , CM000669.2:g.4785011C>T	GRCh38
NC_000007.13:g.4824642C>T , CM000669.1:g.4824642C>T	GRCh37
NC_000007.12:g.4791168C>T	NCBI36
NG_028111.1:g.14381C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.894C>T MANE Select	NP_055670.1:p.Phe298=
ENST00000649063.2:c.894C>T MANE Select	ENSP00000497815.1:p.Phe298=
NM_001364858.1:c.426C>T	NP_001351787.1:p.Phe142=
NM_014855.2:c.894C>T	NP_055670.1:p.Phe298=
NR_157345.1:n.987C>T
ENST00000348624.4:c.894C>T	ENSP00000297562.4:p.Phe298=
ENST00000477680.5:n.652C>T
ENST00000477680.6:n.652C>T
ENST00000491375.1:n.749C>T
ENST00000496303.5:n.958C>T
ENST00000496303.6:n.722C>T
ENST00000647628.1:n.385C>T
ENST00000647984.1:c.*239C>T	ENSP00000497794.1:n.*239C>T
ENST00000648925.1:c.894C>T	ENSP00000496830.1:p.Phe298=
ENST00000649315.1:c.104C>T
ENST00000649419.1:n.101C>T
ENST00000650310.1:c.894C>T	ENSP00000497395.1:p.Phe298=
XR_242109.1:n.919C>T