Canonical Allele Identifier: CA4137964

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788918G>T , CM000669.2:g.4788918G>T	GRCh38
NC_000007.13:g.4828549G>T , CM000669.1:g.4828549G>T	GRCh37
NC_000007.12:g.4795075G>T	NCBI36
NG_028111.1:g.18288G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1674G>T MANE Select	NP_055670.1:p.Thr558=
ENST00000649063.2:c.1674G>T MANE Select	ENSP00000497815.1:p.Thr558=
NM_001364858.1:c.1206G>T	NP_001351787.1:p.Thr402=
NM_014855.2:c.1674G>T	NP_055670.1:p.Thr558=
NR_157345.1:n.1805G>T
ENST00000348624.4:c.1674G>T	ENSP00000297562.4:p.Thr558=
ENST00000469614.1:n.693G>T
ENST00000477454.1:n.455G>T
ENST00000477680.5:n.1432G>T
ENST00000477680.6:n.1432G>T
ENST00000496303.5:n.1738G>T
ENST00000496303.6:n.1502G>T
ENST00000647984.1:c.*1019G>T	ENSP00000497794.1:n.*1019G>T
ENST00000648360.1:c.284G>T
ENST00000648925.1:c.1674G>T	ENSP00000496830.1:p.Thr558=
ENST00000649315.1:c.1171G>T
ENST00000649419.1:n.1553G>T
ENST00000649736.1:n.537G>T
ENST00000650310.1:c.*245G>T	ENSP00000497395.1:n.*245G>T
ENST00000650581.1:c.476G>T
XR_242109.1:n.1737G>T