Canonical Allele Identifier: CA2639346139

Gene: PECAM1

Linked Data

• gnomAD v4: 17-64350421-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64350421T>A , CM000679.2:g.64350421T>A	GRCh38
NC_000017.9:g.59781526T>A	NCBI36
NG_047009.1:g.68381A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563924.6:c.2003A>T MANE Select	ENSP00000457421.1:p.Asp668Val
ENST00000563924.5:c.2003A>T	ENSP00000457421.1:p.Asp668Val
NM_000442.4:c.2003A>T	NP_000433.4:p.Asp668Val
XM_005276880.1:c.2003A>T	XP_005276937.1:p.Asp668Val
XM_005276881.1:c.2003A>T	XP_005276938.1:p.Asp668Val
XM_005276882.1:c.2003A>T	XP_005276939.1:p.Asp668Val
XM_005276883.1:c.2003A>T	XP_005276940.1:p.Asp668Val
XM_011524889.1:c.2003A>T	XP_011523191.1:p.Asp668Val
XM_011524890.1:c.2003A>T	XP_011523192.1:p.Asp668Val
XM_005276883.2:c.2003A>T	XP_005276940.1:p.Asp668Val
XM_011524889.2:c.2003A>T	XP_011523191.1:p.Asp668Val
XM_017024738.1:c.2003A>T	XP_016880227.1:p.Asp668Val
XM_017024739.1:c.1990+1969A>T	XP_016880228.1:n.1990+1969A>T
XM_017024740.1:c.2003A>T	XP_016880229.1:p.Asp668Val
XM_017024741.1:c.1990+1969A>T	XP_016880230.1:n.1990+1969A>T
NM_000442.5:c.2003A>T MANE Select	NP_000433.4:p.Asp668Val