Canonical Allele Identifier: CA366663286

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788242C>T , CM000669.2:g.4788242C>T	GRCh38
NC_000007.13:g.4827873C>T , CM000669.1:g.4827873C>T	GRCh37
NC_000007.12:g.4794399C>T	NCBI36
NG_028111.1:g.17612C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1543C>T MANE Select	NP_055670.1:p.Gln515Ter
ENST00000649063.2:c.1543C>T MANE Select	ENSP00000497815.1:p.Gln515Ter
NM_001364858.1:c.1075C>T	NP_001351787.1:p.Gln359Ter
NM_014855.2:c.1543C>T	NP_055670.1:p.Gln515Ter
NR_157345.1:n.1674C>T
ENST00000348624.4:c.1543C>T	ENSP00000297562.4:p.Gln515Ter
ENST00000469614.1:n.17C>T
ENST00000477454.1:n.324C>T
ENST00000477680.5:n.1301C>T
ENST00000477680.6:n.1301C>T
ENST00000496303.5:n.1607C>T
ENST00000496303.6:n.1371C>T
ENST00000647984.1:c.*888C>T	ENSP00000497794.1:n.*888C>T
ENST00000648360.1:c.153C>T
ENST00000648925.1:c.1543C>T	ENSP00000496830.1:p.Gln515Ter
ENST00000649315.1:c.1040C>T
ENST00000649419.1:n.1422C>T
ENST00000649736.1:n.406C>T
ENST00000650310.1:c.*114C>T	ENSP00000497395.1:n.*114C>T
ENST00000650581.1:c.345C>T
XR_242109.1:n.1606C>T