Canonical Allele Identifier: CA4137575

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785595C>T , CM000669.2:g.4785595C>T	GRCh38
NC_000007.13:g.4825226C>T , CM000669.1:g.4825226C>T	GRCh37
NC_000007.12:g.4791752C>T	NCBI36
NG_028111.1:g.14965C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1043C>T MANE Select	NP_055670.1:p.Ser348Phe
ENST00000649063.2:c.1043C>T MANE Select	ENSP00000497815.1:p.Ser348Phe
NM_001364858.1:c.575C>T	NP_001351787.1:p.Ser192Phe
NM_014855.2:c.1043C>T	NP_055670.1:p.Ser348Phe
NR_157345.1:n.1136C>T
ENST00000348624.4:c.1043C>T	ENSP00000297562.4:p.Ser348Phe
ENST00000477680.5:n.801C>T
ENST00000477680.6:n.801C>T
ENST00000496303.5:n.1107C>T
ENST00000496303.6:n.871C>T
ENST00000647628.1:n.534C>T
ENST00000647984.1:c.*388C>T	ENSP00000497794.1:n.*388C>T
ENST00000648925.1:c.1043C>T	ENSP00000496830.1:p.Ser348Phe
ENST00000649315.1:c.253C>T
ENST00000649419.1:n.319C>T
ENST00000650310.1:c.1043C>T	ENSP00000497395.1:p.Ser348Phe
XR_242109.1:n.1068C>T