Canonical Allele Identifier: CA9215436

Gene: ACP5 ZNF627

Linked Data

• ClinVar Variation Id: 1925171
• ClinVar RCV Id: RCV002618052
• dbSNP Id: rs769135184
• ExAC: 19:11687522 G / A
• gnomAD v2: 19-11687522-G-A
• gnomAD v4: 19-11576707-G-A
• MyVariant Identifiers: chr19:g.11687522G>A (hg19) ; chr19:g.11576707G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11576707G>A , CM000681.2:g.11576707G>A	GRCh38
NC_000019.9:g.11687522G>A , CM000681.1:g.11687522G>A	GRCh37
NC_000019.8:g.11548522G>A	NCBI36
NG_028127.1:g.7280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218758.10:c.389+9C>T (ACP5)	ENSP00000218758.4:n.389+9C>T
ENST00000412435.7:c.389+9C>T (ACP5)	ENSP00000392374.1:n.389+9C>T
ENST00000588524.6:n.904C>T (ACP5)
ENST00000588625.2:c.514+9C>T (ACP5)	ENSP00000512197.1:n.514+9C>T
ENST00000589792.6:c.389+9C>T (ACP5)	ENSP00000468685.2:n.389+9C>T
ENST00000590832.2:c.389+9C>T (ACP5)	ENSP00000465127.2:n.389+9C>T
ENST00000591319.2:c.389+9C>T (ACP5)	ENSP00000464831.2:n.389+9C>T
ENST00000592659.2:c.389+9C>T (ACP5)	ENSP00000465498.2:n.389+9C>T
ENST00000592828.7:c.389+9C>T (ACP5)	ENSP00000468767.3:n.389+9C>T
ENST00000649386.2:c.389+9C>T (ACP5)	ENSP00000497140.2:n.389+9C>T
ENST00000695791.1:c.389+9C>T (ACP5)	ENSP00000512173.1:n.389+9C>T
ENST00000695809.1:c.386+9C>T (ACP5)	ENSP00000512189.1:n.386+9C>T
ENST00000695810.1:c.311+87C>T (ACP5)	ENSP00000512190.1:n.311+87C>T
ENST00000695811.1:c.389+9C>T (ACP5)	ENSP00000512191.1:n.389+9C>T
ENST00000695812.1:n.1007+9C>T (ACP5)
ENST00000695813.1:c.386+9C>T (ACP5)	ENSP00000512192.1:n.386+9C>T
ENST00000695814.1:c.290+9C>T (ACP5)	ENSP00000512193.1:n.290+9C>T
ENST00000695815.1:c.386+9C>T (ACP5)	ENSP00000512194.1:n.386+9C>T
ENST00000695816.1:n.826C>T (ACP5)
ENST00000695817.1:c.386+9C>T (ACP5)	ENSP00000512195.1:n.386+9C>T
ENST00000695818.1:c.262-119C>T (ACP5)	ENSP00000512196.1:n.262-119C>T
ENST00000695819.1:n.894+9C>T (ACP5)
ENST00000695820.1:c.311+87C>T (ACP5)	ENSP00000512198.1:n.311+87C>T
ENST00000695821.1:c.311+87C>T (ACP5)	ENSP00000512199.1:n.311+87C>T
ENST00000695838.1:n.2247C>T (ACP5)
ENST00000648477.1:c.389+9C>T (ACP5) MANE Select	ENSP00000496973.1:n.389+9C>T
ENST00000218758.9:c.389+9C>T (ACP5)	ENSP00000218758.4:n.389+9C>T
ENST00000412435.6:c.389+9C>T (ACP5)	ENSP00000392374.1:n.389+9C>T
ENST00000433365.2:c.389+9C>T (ACP5)	ENSP00000413456.1:n.389+9C>T
ENST00000585493.5:c.-94+1354G>A (ZNF627)	ENSP00000464997.1:n.-94+1354G>A
ENST00000588524.5:n.904C>T (ACP5)
ENST00000588625.1:n.228+9C>T (ACP5)
ENST00000590420.1:c.54+557C>T (ACP5)	ENSP00000468509.1:n.54+557C>T
ENST00000592828.5:c.389+9C>T (ACP5)	ENSP00000468767.1:n.389+9C>T
ENST00000593279.5:n.519+1354G>A (ZNF627)
NM_001111034.1:c.389+9C>T (ACP5)	NP_001104504.1:n.389+9C>T
NM_001111035.1:c.389+9C>T (ACP5)	NP_001104505.1:n.389+9C>T
NM_001111036.1:c.389+9C>T (ACP5)	NP_001104506.1:n.389+9C>T
NM_001611.3:c.389+9C>T (ACP5)	NP_001602.1:n.389+9C>T
XM_005259938.1:c.389+9C>T (ACP5)	XP_005259995.1:n.389+9C>T
XM_005259939.3:c.389+9C>T (ACP5)	XP_005259996.1:n.389+9C>T
XM_011527780.1:c.-94+1354G>A (ZNF627)	XP_011526082.1:n.-94+1354G>A
XM_011528069.1:c.389+9C>T (ACP5)	XP_011526371.1:n.389+9C>T
NM_001111034.2:c.389+9C>T (ACP5)	NP_001104504.1:n.389+9C>T
NM_001111035.2:c.389+9C>T (ACP5)	NP_001104505.1:n.389+9C>T
NM_001111036.2:c.389+9C>T (ACP5)	NP_001104506.1:n.389+9C>T
NM_001322023.1:c.389+9C>T (ACP5)	NP_001308952.1:n.389+9C>T
NM_001611.5:c.389+9C>T (ACP5) MANE Select	NP_001602.1:n.389+9C>T
XM_011527780.2:c.-94+1354G>A (ZNF627)	XP_011526082.1:n.-94+1354G>A
XM_011528069.2:c.389+9C>T (ACP5)	XP_011526371.1:n.389+9C>T
NM_001111034.3:c.389+9C>T (ACP5)	NP_001104504.1:n.389+9C>T
NM_001111035.3:c.389+9C>T (ACP5)	NP_001104505.1:n.389+9C>T
NM_001111036.3:c.389+9C>T (ACP5)	NP_001104506.1:n.389+9C>T
NM_001322023.2:c.389+9C>T (ACP5)	NP_001308952.1:n.389+9C>T