Canonical Allele Identifier: CA121974

Gene: AVP

Linked Data

• ClinVar Variation Id: 12219
• ClinVar RCV Id: RCV000013003
• dbSNP Id: rs121964892
• COSMIC: COSM5589771
• MyVariant Identifiers: chr20:g.3065301G>A (hg19) ; chr20:g.3084655G>A (hg38)
• PubMed: PMID:10369876 ; PMID:15356057

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3084655G>A , CM000682.2:g.3084655G>A	GRCh38
NC_000020.10:g.3065301G>A , CM000682.1:g.3065301G>A	GRCh37
NC_000020.9:g.3013301G>A	NCBI36
NG_008663.1:g.5070C>T , LRG_715:g.5070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380293.3:c.20C>T MANE Select	ENSP00000369647.3:p.Pro7Leu
NM_000490.4:c.20C>T , LRG_715t1:c.20C>T	NP_000481.2:p.Pro7Leu
XM_011529267.1:c.20C>T	XP_011527569.1:p.Pro7Leu
XM_011529267.2:c.20C>T	XP_011527569.1:p.Pro7Leu
NM_000490.5:c.20C>T MANE Select	NP_000481.2:p.Pro7Leu