Canonical Allele Identifier: CA404146858

Gene: ACP5 ZNF627

Linked Data

• ClinVar Variation Id: 1349238
• ClinVar RCV Id: RCV002035159
• dbSNP Id: rs764197394
• MyVariant Identifiers: chr19:g.11687293A>G (hg19) ; chr19:g.11576478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11576478A>G , CM000681.2:g.11576478A>G	GRCh38
NC_000019.9:g.11687293A>G , CM000681.1:g.11687293A>G	GRCh37
NC_000019.8:g.11548293A>G	NCBI36
NG_028127.1:g.7509T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218758.10:c.500T>C (ACP5)	ENSP00000218758.4:p.Phe167Ser
ENST00000412435.7:c.500T>C (ACP5)	ENSP00000392374.1:p.Phe167Ser
ENST00000588524.6:n.1133T>C (ACP5)
ENST00000588625.2:c.625T>C (ACP5)	ENSP00000512197.1:n.625T>C
ENST00000589792.6:c.500T>C (ACP5)	ENSP00000468685.2:p.Phe167Ser
ENST00000590832.2:c.500T>C (ACP5)	ENSP00000465127.2:p.Phe167Ser
ENST00000591319.2:c.500T>C (ACP5)	ENSP00000464831.2:p.Phe167Ser
ENST00000592659.2:c.500T>C (ACP5)	ENSP00000465498.2:p.Phe167Ser
ENST00000592828.7:c.500T>C (ACP5)	ENSP00000468767.3:p.Phe167Ser
ENST00000649386.2:c.500T>C (ACP5)	ENSP00000497140.2:p.Phe167Ser
ENST00000695791.1:c.500T>C (ACP5)	ENSP00000512173.1:p.Phe167Ser
ENST00000695809.1:c.497T>C (ACP5)	ENSP00000512189.1:p.Phe166Ser
ENST00000695810.1:c.422T>C (ACP5)	ENSP00000512190.1:p.Phe141Ser
ENST00000695811.1:c.500T>C (ACP5)	ENSP00000512191.1:p.Phe167Ser
ENST00000695812.1:n.1118T>C (ACP5)
ENST00000695813.1:c.497T>C (ACP5)	ENSP00000512192.1:p.Phe166Ser
ENST00000695814.1:c.401T>C (ACP5)	ENSP00000512193.1:p.Phe134Ser
ENST00000695815.1:c.497T>C (ACP5)	ENSP00000512194.1:p.Phe166Ser
ENST00000695816.1:n.1055T>C (ACP5)
ENST00000695817.1:c.497T>C (ACP5)	ENSP00000512195.1:p.Phe166Ser
ENST00000695818.1:c.*3T>C (ACP5)	ENSP00000512196.1:n.*3T>C
ENST00000695819.1:n.1005T>C (ACP5)
ENST00000695820.1:c.422T>C (ACP5)	ENSP00000512198.1:p.Phe141Ser
ENST00000695821.1:c.422T>C (ACP5)	ENSP00000512199.1:p.Phe141Ser
ENST00000695838.1:n.2476T>C (ACP5)
ENST00000648477.1:c.500T>C (ACP5) MANE Select	ENSP00000496973.1:p.Phe167Ser
ENST00000218758.9:c.500T>C (ACP5)	ENSP00000218758.4:p.Phe167Ser
ENST00000412435.6:c.500T>C (ACP5)	ENSP00000392374.1:p.Phe167Ser
ENST00000433365.2:c.500T>C (ACP5)	ENSP00000413456.1:p.Phe167Ser
ENST00000585493.5:c.-94+1125A>G (ZNF627)	ENSP00000464997.1:n.-94+1125A>G
ENST00000588625.1:n.339T>C (ACP5)
ENST00000590420.1:c.54+786T>C (ACP5)	ENSP00000468509.1:n.54+786T>C
ENST00000592828.5:c.500T>C (ACP5)	ENSP00000468767.1:p.Phe167Ser
ENST00000593279.5:n.519+1125A>G (ZNF627)
NM_001111034.1:c.500T>C (ACP5)	NP_001104504.1:p.Phe167Ser
NM_001111035.1:c.500T>C (ACP5)	NP_001104505.1:p.Phe167Ser
NM_001111036.1:c.500T>C (ACP5)	NP_001104506.1:p.Phe167Ser
NM_001611.3:c.500T>C (ACP5)	NP_001602.1:p.Phe167Ser
XM_005259938.1:c.500T>C (ACP5)	XP_005259995.1:p.Phe167Ser
XM_005259939.3:c.500T>C (ACP5)	XP_005259996.1:p.Phe167Ser
XM_011527780.1:c.-94+1125A>G (ZNF627)	XP_011526082.1:n.-94+1125A>G
XM_011528069.1:c.500T>C (ACP5)	XP_011526371.1:p.Phe167Ser
NM_001111034.2:c.500T>C (ACP5)	NP_001104504.1:p.Phe167Ser
NM_001111035.2:c.500T>C (ACP5)	NP_001104505.1:p.Phe167Ser
NM_001111036.2:c.500T>C (ACP5)	NP_001104506.1:p.Phe167Ser
NM_001322023.1:c.500T>C (ACP5)	NP_001308952.1:p.Phe167Ser
NM_001611.5:c.500T>C (ACP5) MANE Select	NP_001602.1:p.Phe167Ser
XM_011527780.2:c.-94+1125A>G (ZNF627)	XP_011526082.1:n.-94+1125A>G
XM_011528069.2:c.500T>C (ACP5)	XP_011526371.1:p.Phe167Ser
NM_001111034.3:c.500T>C (ACP5)	NP_001104504.1:p.Phe167Ser
NM_001111035.3:c.500T>C (ACP5)	NP_001104505.1:p.Phe167Ser
NM_001111036.3:c.500T>C (ACP5)	NP_001104506.1:p.Phe167Ser
NM_001322023.2:c.500T>C (ACP5)	NP_001308952.1:p.Phe167Ser