Canonical Allele Identifier: CA4137875

Gene: AP5Z1

Linked Data

• ClinVar Variation Id: 412233
• ClinVar RCV Id: RCV000476354 ; RCV001508573 ; RCV001848820 ; RCV004525935
• dbSNP Id: rs186003800
• ExAC: 7:4827903 A / C
• gnomAD v2: 7-4827903-A-C
• gnomAD v3: 7-4788272-A-C
• gnomAD v4: 7-4788272-A-C
• COSMIC: COSM4593609 ; COSM4593610
• MyVariant Identifiers: chr7:g.4827903A>C (hg19) ; chr7:g.4788272A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.4788272A>C , CM000669.2:g.4788272A>C	GRCh38
NC_000007.13:g.4827903A>C , CM000669.1:g.4827903A>C	GRCh37
NC_000007.12:g.4794429A>C	NCBI36
NG_028111.1:g.17642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477680.6:n.1331A>C
ENST00000496303.6:n.1401A>C
ENST00000647984.1:c.*918A>C	ENSP00000497794.1:n.*918A>C
ENST00000648360.1:c.183A>C
ENST00000648925.1:c.1573A>C	ENSP00000496830.1:p.Lys525Gln
ENST00000649063.2:c.1573A>C MANE Select	ENSP00000497815.1:p.Lys525Gln
ENST00000649315.1:c.1070A>C
ENST00000649419.1:n.1452A>C
ENST00000649736.1:n.436A>C
ENST00000650310.1:c.*144A>C	ENSP00000497395.1:n.*144A>C
ENST00000650581.1:c.375A>C
ENST00000348624.4:c.1573A>C	ENSP00000297562.4:p.Lys525Gln
ENST00000469614.1:n.47A>C
ENST00000477454.1:n.354A>C
ENST00000477680.5:n.1331A>C
ENST00000496303.5:n.1637A>C
NM_014855.2:c.1573A>C	NP_055670.1:p.Lys525Gln
XR_242109.1:n.1636A>C
NM_001364858.1:c.1105A>C	NP_001351787.1:p.Lys369Gln
NM_014855.3:c.1573A>C MANE Select	NP_055670.1:p.Lys525Gln
NR_157345.1:n.1704A>C