Canonical Allele Identifier: CA366662849

Gene: AP5Z1

Linked Data

• gnomAD v4: 7-4787644-G-C
• MyVariant Identifiers: chr7:g.4827275G>C (hg19) ; chr7:g.4787644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4787644G>C , CM000669.2:g.4787644G>C	GRCh38
NC_000007.13:g.4827275G>C , CM000669.1:g.4827275G>C	GRCh37
NC_000007.12:g.4793801G>C	NCBI36
NG_028111.1:g.17014G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.1080G>C
ENST00000496303.6:n.1150G>C
ENST00000647984.1:c.*667G>C	ENSP00000497794.1:n.*667G>C
ENST00000648765.1:n.645G>C
ENST00000648925.1:c.1322G>C	ENSP00000496830.1:p.Trp441Ser
ENST00000649063.2:c.1322G>C MANE Select	ENSP00000497815.1:p.Trp441Ser
ENST00000649315.1:c.819G>C
ENST00000649419.1:n.1201G>C
ENST00000650310.1:c.1360G>C	ENSP00000497395.1:p.Gly454Arg
ENST00000650581.1:c.124G>C
ENST00000348624.4:c.1322G>C	ENSP00000297562.4:p.Trp441Ser
ENST00000477454.1:n.103G>C
ENST00000477680.5:n.1080G>C
ENST00000496303.5:n.1386G>C
NM_014855.2:c.1322G>C	NP_055670.1:p.Trp441Ser
XR_242109.1:n.1385G>C
NM_001364858.1:c.854G>C	NP_001351787.1:p.Trp285Ser
NM_014855.3:c.1322G>C MANE Select	NP_055670.1:p.Trp441Ser
NR_157345.1:n.1453G>C