Canonical Allele Identifier: CA4137935

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788841T>C , CM000669.2:g.4788841T>C	GRCh38
NC_000007.13:g.4828472T>C , CM000669.1:g.4828472T>C	GRCh37
NC_000007.12:g.4794998T>C	NCBI36
NG_028111.1:g.18211T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1597T>C MANE Select	NP_055670.1:p.Leu533=
ENST00000649063.2:c.1597T>C MANE Select	ENSP00000497815.1:p.Leu533=
NM_001364858.1:c.1129T>C	NP_001351787.1:p.Leu377=
NM_014855.2:c.1597T>C	NP_055670.1:p.Leu533=
NR_157345.1:n.1728T>C
ENST00000348624.4:c.1597T>C	ENSP00000297562.4:p.Leu533=
ENST00000469614.1:n.616T>C
ENST00000477454.1:n.378T>C
ENST00000477680.5:n.1355T>C
ENST00000477680.6:n.1355T>C
ENST00000496303.5:n.1661T>C
ENST00000496303.6:n.1425T>C
ENST00000647984.1:c.*942T>C	ENSP00000497794.1:n.*942T>C
ENST00000648360.1:c.207T>C
ENST00000648925.1:c.1597T>C	ENSP00000496830.1:p.Leu533=
ENST00000649315.1:c.1094T>C
ENST00000649419.1:n.1476T>C
ENST00000649736.1:n.460T>C
ENST00000650310.1:c.*168T>C	ENSP00000497395.1:n.*168T>C
ENST00000650581.1:c.399T>C
XR_242109.1:n.1660T>C