Canonical Allele Identifier: CA293400522

Gene: PECAM1

Linked Data

• ClinVar Variation Id: 812624
• ClinVar RCV Id: RCV001003441
• dbSNP Id: rs12953
• gnomAD v3: 17-64356203-C-T
• gnomAD v4: 17-64356203-C-T
• MyVariant Identifiers: chr17:g.64356203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64356203C>T , CM000679.2:g.64356203C>T	GRCh38
NC_000017.9:g.59787297C>T	NCBI36
NG_047009.1:g.62599G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000563924.6:c.1688G>A MANE Select	ENSP00000457421.1:p.Ser563Asn
ENST00000563924.5:c.1688G>A	ENSP00000457421.1:p.Ser563Asn
NM_000442.4:c.1688G>A	NP_000433.4:p.Ser563Asn
XM_005276880.1:c.1688G>A	XP_005276937.1:p.Ser563Asn
XM_005276881.1:c.1688G>A	XP_005276938.1:p.Ser563Asn
XM_005276882.1:c.1688G>A	XP_005276939.1:p.Ser563Asn
XM_005276883.1:c.1688G>A	XP_005276940.1:p.Ser563Asn
XM_011524889.1:c.1688G>A	XP_011523191.1:p.Ser563Asn
XM_011524890.1:c.1688G>A	XP_011523192.1:p.Ser563Asn
XM_005276883.2:c.1688G>A	XP_005276940.1:p.Ser563Asn
XM_011524889.2:c.1688G>A	XP_011523191.1:p.Ser563Asn
XM_017024738.1:c.1688G>A	XP_016880227.1:p.Ser563Asn
XM_017024739.1:c.1688G>A	XP_016880228.1:p.Ser563Asn
XM_017024740.1:c.1688G>A	XP_016880229.1:p.Ser563Asn
XM_017024741.1:c.1688G>A	XP_016880230.1:p.Ser563Asn
NM_000442.5:c.1688G>A MANE Select	NP_000433.4:p.Ser563Asn