Canonical Allele Identifier: CA4137318

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4784265C>T , CM000669.2:g.4784265C>T	GRCh38
NC_000007.13:g.4823896C>T , CM000669.1:g.4823896C>T	GRCh37
NC_000007.12:g.4790422C>T	NCBI36
NG_028111.1:g.13635C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.684C>T MANE Select	NP_055670.1:p.Ser228=
ENST00000649063.2:c.684C>T MANE Select	ENSP00000497815.1:p.Ser228=
NM_001364858.1:c.216C>T	NP_001351787.1:p.Ser72=
NM_014855.2:c.684C>T	NP_055670.1:p.Ser228=
NR_157345.1:n.777C>T
ENST00000348624.4:c.684C>T	ENSP00000297562.4:p.Ser228=
ENST00000477680.5:n.442C>T
ENST00000477680.6:n.442C>T
ENST00000491375.1:n.539C>T
ENST00000496303.5:n.748C>T
ENST00000496303.6:n.512C>T
ENST00000647628.1:n.175C>T
ENST00000647984.1:c.*29C>T	ENSP00000497794.1:n.*29C>T
ENST00000648925.1:c.684C>T	ENSP00000496830.1:p.Ser228=
ENST00000650310.1:c.684C>T	ENSP00000497395.1:p.Ser228=
ENST00000650451.1:c.*29C>T	ENSP00000496998.1:n.*29C>T
XR_242109.1:n.709C>T