Canonical Allele Identifier: CA4137587

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785624C>T , CM000669.2:g.4785624C>T	GRCh38
NC_000007.13:g.4825255C>T , CM000669.1:g.4825255C>T	GRCh37
NC_000007.12:g.4791781C>T	NCBI36
NG_028111.1:g.14994C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1072C>T MANE Select	NP_055670.1:p.Arg358Cys
ENST00000649063.2:c.1072C>T MANE Select	ENSP00000497815.1:p.Arg358Cys
NM_001364858.1:c.604C>T	NP_001351787.1:p.Arg202Cys
NM_014855.2:c.1072C>T	NP_055670.1:p.Arg358Cys
NR_157345.1:n.1165C>T
ENST00000348624.4:c.1072C>T	ENSP00000297562.4:p.Arg358Cys
ENST00000477680.5:n.830C>T
ENST00000477680.6:n.830C>T
ENST00000496303.5:n.1136C>T
ENST00000496303.6:n.900C>T
ENST00000647628.1:n.563C>T
ENST00000647984.1:c.*417C>T	ENSP00000497794.1:n.*417C>T
ENST00000648925.1:c.1072C>T	ENSP00000496830.1:p.Arg358Cys
ENST00000649315.1:c.282C>T
ENST00000649419.1:n.348C>T
ENST00000650310.1:c.1072C>T	ENSP00000497395.1:p.Arg358Cys
XR_242109.1:n.1097C>T