Canonical Allele Identifier: CA4138194

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4790602C>T , CM000669.2:g.4790602C>T	GRCh38
NC_000007.13:g.4830233C>T , CM000669.1:g.4830233C>T	GRCh37
NC_000007.12:g.4796759C>T	NCBI36
NG_028111.1:g.19972C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1938+11C>T MANE Select	NP_055670.1:n.1938+11C>T
ENST00000649063.2:c.1938+11C>T MANE Select	ENSP00000497815.1:n.1938+11C>T
NM_001364858.1:c.1470+11C>T	NP_001351787.1:n.1470+11C>T
NM_014855.2:c.1938+11C>T	NP_055670.1:n.1938+11C>T
NR_157345.1:n.2069+11C>T
ENST00000348624.4:c.1938+11C>T	ENSP00000297562.4:n.1938+11C>T
ENST00000469614.1:n.1486+11C>T
ENST00000477680.5:n.2225+11C>T
ENST00000477680.6:n.2225+11C>T
ENST00000490487.1:n.226+11C>T
ENST00000496303.5:n.2247+11C>T
ENST00000496303.6:n.1766+11C>T
ENST00000647984.1:c.*1283+11C>T	ENSP00000497794.1:n.*1283+11C>T
ENST00000648237.1:c.226+11C>T
ENST00000648360.1:c.618+11C>T
ENST00000648925.1:c.*341+11C>T	ENSP00000496830.1:n.*341+11C>T
ENST00000649315.1:c.1435+11C>T
ENST00000649419.1:n.1817+11C>T
ENST00000649736.1:n.801+11C>T
ENST00000650310.1:c.*509+11C>T	ENSP00000497395.1:n.*509+11C>T
ENST00000650581.1:c.608-208C>T