Canonical Allele Identifier: CA153024089

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785546C>T , CM000669.2:g.4785546C>T	GRCh38
NC_000007.13:g.4825177C>T , CM000669.1:g.4825177C>T	GRCh37
NC_000007.12:g.4791703C>T	NCBI36
NG_028111.1:g.14916C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.994C>T MANE Select	NP_055670.1:p.Leu332=
ENST00000649063.2:c.994C>T MANE Select	ENSP00000497815.1:p.Leu332=
NM_001364858.1:c.526C>T	NP_001351787.1:p.Leu176=
NM_014855.2:c.994C>T	NP_055670.1:p.Leu332=
NR_157345.1:n.1087C>T
ENST00000348624.4:c.994C>T	ENSP00000297562.4:p.Leu332=
ENST00000477680.5:n.752C>T
ENST00000477680.6:n.752C>T
ENST00000496303.5:n.1058C>T
ENST00000496303.6:n.822C>T
ENST00000647628.1:n.485C>T
ENST00000647984.1:c.*339C>T	ENSP00000497794.1:n.*339C>T
ENST00000648925.1:c.994C>T	ENSP00000496830.1:p.Leu332=
ENST00000649315.1:c.204C>T
ENST00000649419.1:n.270C>T
ENST00000650310.1:c.994C>T	ENSP00000497395.1:p.Leu332=
XR_242109.1:n.1019C>T