Canonical Allele Identifier: CA232217

Gene: PTX3 VEPH1

Linked Data

• ClinVar Variation Id: 91946
• ClinVar RCV Id: RCV000122503
• dbSNP Id: rs386352354
• ExAC: 3:157154830 T / C
• gnomAD v2: 3-157154830-T-C
• gnomAD v4: 3-157437041-T-C
• MyVariant Identifiers: chr3:g.157154830T>C (hg19) ; chr3:g.157154830_157154831delinsCG (hg19) ; chr3:g.157437041T>C (hg38) ; chr3:g.157437041_157437042delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.157437041T>C , CM000665.2:g.157437041T>C	GRCh38
NC_000003.11:g.157154830T>C , CM000665.1:g.157154830T>C	GRCh37
NC_000003.10:g.158637524T>C	NCBI36
NG_051000.1:g.5251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295927.4:c.108T>C (PTX3) MANE Select	ENSP00000295927.3:p.Asn36=
ENST00000362010.7:c.530-8553A>G (VEPH1) MANE Select	ENSP00000354919.2:n.530-8553A>G
ENST00000295927.3:c.108T>C (PTX3)	ENSP00000295927.3:p.Asn36=
ENST00000362010.6:c.530-8553A>G (VEPH1)	ENSP00000354919.2:n.530-8553A>G
ENST00000392832.6:c.530-8553A>G (VEPH1)	ENSP00000376577.2:n.530-8553A>G
ENST00000392833.6:c.530-8553A>G (VEPH1)	ENSP00000376578.2:n.530-8553A>G
ENST00000479987.5:c.194-8553A>G (VEPH1)	ENSP00000418963.1:n.194-8553A>G
NM_001167911.1:c.530-8553A>G (VEPH1)	NP_001161383.1:n.530-8553A>G
NM_001167912.1:c.530-8553A>G (VEPH1)	NP_001161384.1:n.530-8553A>G
NM_002852.3:c.108T>C (PTX3)	NP_002843.2:p.Asn36=
NM_024621.2:c.530-8553A>G (VEPH1)	NP_078897.2:n.530-8553A>G
XM_011513134.1:c.563-8553A>G (VEPH1)	XP_011511436.1:n.563-8553A>G
XM_011513135.1:c.395-8553A>G (VEPH1)	XP_011511437.1:n.395-8553A>G
XM_011513134.2:c.563-8553A>G (VEPH1)	XP_011511436.1:n.563-8553A>G
XM_011513135.2:c.395-8553A>G (VEPH1)	XP_011511437.1:n.395-8553A>G
XM_024453746.1:c.530-8553A>G (VEPH1)	XP_024309514.1:n.530-8553A>G
XM_024453747.1:c.530-8553A>G (VEPH1)	XP_024309515.1:n.530-8553A>G
XM_024453748.1:c.530-8553A>G (VEPH1)	XP_024309516.1:n.530-8553A>G
NM_001167912.2:c.530-8553A>G (VEPH1) MANE Select	NP_001161384.1:n.530-8553A>G
NM_002852.4:c.108T>C (PTX3) MANE Select	NP_002843.2:p.Asn36=
NM_001167911.2:c.530-8553A>G (VEPH1)	NP_001161383.1:n.530-8553A>G