Canonical Allele Identifier: CA4138244

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790708C>T , CM000669.2:g.4790708C>T	GRCh38
NC_000007.13:g.4830339C>T , CM000669.1:g.4830339C>T	GRCh37
NC_000007.12:g.4796865C>T	NCBI36
NG_028111.1:g.20078C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1974C>T MANE Select	NP_055670.1:p.Tyr658=
ENST00000649063.2:c.1974C>T MANE Select	ENSP00000497815.1:p.Tyr658=
NM_001364858.1:c.1506C>T	NP_001351787.1:p.Tyr502=
NM_014855.2:c.1974C>T	NP_055670.1:p.Tyr658=
NR_157345.1:n.2105C>T
ENST00000348624.4:c.1974C>T	ENSP00000297562.4:p.Tyr658=
ENST00000469614.1:n.1522C>T
ENST00000477680.5:n.2261C>T
ENST00000477680.6:n.2261C>T
ENST00000490487.1:n.227-102C>T
ENST00000496303.5:n.2283C>T
ENST00000496303.6:n.1802C>T
ENST00000647984.1:c.*1319C>T	ENSP00000497794.1:n.*1319C>T
ENST00000648237.1:c.227-102C>T
ENST00000648360.1:c.654C>T
ENST00000648925.1:c.*377C>T	ENSP00000496830.1:n.*377C>T
ENST00000649315.1:c.1471C>T
ENST00000649419.1:n.1853C>T
ENST00000649736.1:n.837C>T
ENST00000650310.1:c.*545C>T	ENSP00000497395.1:n.*545C>T
ENST00000650581.1:c.608-102C>T