Canonical Allele Identifier: CA4137613

Gene: AP5Z1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4785684G>C , CM000669.2:g.4785684G>C	GRCh38
NC_000007.13:g.4825315G>C , CM000669.1:g.4825315G>C	GRCh37
NC_000007.12:g.4791841G>C	NCBI36
NG_028111.1:g.15054G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014855.3:c.1132G>C MANE Select	NP_055670.1:p.Gly378Arg
ENST00000649063.2:c.1132G>C MANE Select	ENSP00000497815.1:p.Gly378Arg
NM_001364858.1:c.664G>C	NP_001351787.1:p.Gly222Arg
NM_014855.2:c.1132G>C	NP_055670.1:p.Gly378Arg
NR_157345.1:n.1225G>C
ENST00000348624.4:c.1132G>C	ENSP00000297562.4:p.Gly378Arg
ENST00000477680.5:n.890G>C
ENST00000477680.6:n.890G>C
ENST00000496303.5:n.1196G>C
ENST00000496303.6:n.960G>C
ENST00000647628.1:n.623G>C
ENST00000647984.1:c.*477G>C	ENSP00000497794.1:n.*477G>C
ENST00000648925.1:c.1132G>C	ENSP00000496830.1:p.Gly378Arg
ENST00000649315.1:c.342G>C
ENST00000649419.1:n.408G>C
ENST00000650310.1:c.1132G>C	ENSP00000497395.1:p.Gly378Arg
XR_242109.1:n.1157G>C