Canonical Allele Identifier: CA4137960

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788909C>T , CM000669.2:g.4788909C>T	GRCh38
NC_000007.13:g.4828540C>T , CM000669.1:g.4828540C>T	GRCh37
NC_000007.12:g.4795066C>T	NCBI36
NG_028111.1:g.18279C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1665C>T MANE Select	NP_055670.1:p.Ala555=
ENST00000649063.2:c.1665C>T MANE Select	ENSP00000497815.1:p.Ala555=
NM_001364858.1:c.1197C>T	NP_001351787.1:p.Ala399=
NM_014855.2:c.1665C>T	NP_055670.1:p.Ala555=
NR_157345.1:n.1796C>T
ENST00000348624.4:c.1665C>T	ENSP00000297562.4:p.Ala555=
ENST00000469614.1:n.684C>T
ENST00000477454.1:n.446C>T
ENST00000477680.5:n.1423C>T
ENST00000477680.6:n.1423C>T
ENST00000496303.5:n.1729C>T
ENST00000496303.6:n.1493C>T
ENST00000647984.1:c.*1010C>T	ENSP00000497794.1:n.*1010C>T
ENST00000648360.1:c.275C>T
ENST00000648925.1:c.1665C>T	ENSP00000496830.1:p.Ala555=
ENST00000649315.1:c.1162C>T
ENST00000649419.1:n.1544C>T
ENST00000649736.1:n.528C>T
ENST00000650310.1:c.*236C>T	ENSP00000497395.1:n.*236C>T
ENST00000650581.1:c.467C>T
XR_242109.1:n.1728C>T