Canonical Allele Identifier: CA2680552

Gene: PTX3 VEPH1

Linked Data

• dbSNP Id: rs3816527
• ExAC: 3:157155314 C / A
• gnomAD v2: 3-157155314-C-A
• gnomAD v3: 3-157437525-C-A
• gnomAD v4: 3-157437525-C-A
• MyVariant Identifiers: chr3:g.157155314C>A (hg19) ; chr3:g.157437525C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.157437525C>A , CM000665.2:g.157437525C>A	GRCh38
NC_000003.11:g.157155314C>A , CM000665.1:g.157155314C>A	GRCh37
NC_000003.10:g.158638008C>A	NCBI36
NG_051000.1:g.5735C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000295927.4:c.143C>A (PTX3) MANE Select	ENSP00000295927.3:p.Ala48Asp
ENST00000362010.7:c.530-9037G>T (VEPH1) MANE Select	ENSP00000354919.2:n.530-9037G>T
ENST00000295927.3:c.143C>A (PTX3)	ENSP00000295927.3:p.Ala48Asp
ENST00000362010.6:c.530-9037G>T (VEPH1)	ENSP00000354919.2:n.530-9037G>T
ENST00000392832.6:c.530-9037G>T (VEPH1)	ENSP00000376577.2:n.530-9037G>T
ENST00000392833.6:c.530-9037G>T (VEPH1)	ENSP00000376578.2:n.530-9037G>T
ENST00000479987.5:c.194-9037G>T (VEPH1)	ENSP00000418963.1:n.194-9037G>T
NM_001167911.1:c.530-9037G>T (VEPH1)	NP_001161383.1:n.530-9037G>T
NM_001167912.1:c.530-9037G>T (VEPH1)	NP_001161384.1:n.530-9037G>T
NM_002852.3:c.143C>A (PTX3)	NP_002843.2:p.Ala48Asp
NM_024621.2:c.530-9037G>T (VEPH1)	NP_078897.2:n.530-9037G>T
XM_011513134.1:c.563-9037G>T (VEPH1)	XP_011511436.1:n.563-9037G>T
XM_011513135.1:c.395-9037G>T (VEPH1)	XP_011511437.1:n.395-9037G>T
XM_011513134.2:c.563-9037G>T (VEPH1)	XP_011511436.1:n.563-9037G>T
XM_011513135.2:c.395-9037G>T (VEPH1)	XP_011511437.1:n.395-9037G>T
XM_024453746.1:c.530-9037G>T (VEPH1)	XP_024309514.1:n.530-9037G>T
XM_024453747.1:c.530-9037G>T (VEPH1)	XP_024309515.1:n.530-9037G>T
XM_024453748.1:c.530-9037G>T (VEPH1)	XP_024309516.1:n.530-9037G>T
NM_001167912.2:c.530-9037G>T (VEPH1) MANE Select	NP_001161384.1:n.530-9037G>T
NM_002852.4:c.143C>A (PTX3) MANE Select	NP_002843.2:p.Ala48Asp
NM_001167911.2:c.530-9037G>T (VEPH1)	NP_001161383.1:n.530-9037G>T