Canonical Allele Identifier: CA123258

Gene: PECAM1

Linked Data

• ClinVar Variation Id: 156304
• ClinVar RCV Id: RCV000014538 ; RCV000144388 ; RCV001003440
• dbSNP Id: rs281865545
• gnomAD v3: 17-64377836-C-G
• gnomAD v4: 17-64377836-C-G
• MyVariant Identifiers: chr17:g.64377836C>G (hg38)
• PubMed: PMID:8532023

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64377836C>G , CM000679.2:g.64377836C>G	GRCh38
NG_047009.1:g.40966G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000563924.6:c.373G>C MANE Select	ENSP00000457421.1:p.Val125Leu
ENST00000561739.5:n.402G>C
ENST00000563523.5:c.358G>C	ENSP00000455931.1:p.Val120Leu
ENST00000563924.5:c.373G>C	ENSP00000457421.1:p.Val125Leu
ENST00000564866.5:c.373G>C	ENSP00000455663.1:p.Val125Leu
ENST00000566616.1:n.352G>C
ENST00000569530.1:n.359G>C
ENST00000569967.1:c.373G>C	ENSP00000457218.1:p.Val125Leu
NM_000442.4:c.373G>C	NP_000433.4:p.Val125Leu
XM_005276880.1:c.373G>C	XP_005276937.1:p.Val125Leu
XM_005276881.1:c.373G>C	XP_005276938.1:p.Val125Leu
XM_005276882.1:c.373G>C	XP_005276939.1:p.Val125Leu
XM_005276883.1:c.373G>C	XP_005276940.1:p.Val125Leu
XM_011524889.1:c.373G>C	XP_011523191.1:p.Val125Leu
XM_011524890.1:c.373G>C	XP_011523192.1:p.Val125Leu
XM_005276883.2:c.373G>C	XP_005276940.1:p.Val125Leu
XM_011524889.2:c.373G>C	XP_011523191.1:p.Val125Leu
XM_017024738.1:c.373G>C	XP_016880227.1:p.Val125Leu
XM_017024739.1:c.373G>C	XP_016880228.1:p.Val125Leu
XM_017024740.1:c.373G>C	XP_016880229.1:p.Val125Leu
XM_017024741.1:c.373G>C	XP_016880230.1:p.Val125Leu
NM_000442.5:c.373G>C MANE Select	NP_000433.4:p.Val125Leu