Canonical Allele Identifier: CA344142
Gene: AIP HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 41193
ClinVar RCV Id: RCV000034092
dbSNP Id: rs267606565

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490316G>T , CM000673.2:g.67490316G>T GRCh38
NC_000011.8:g.67014363G>T NCBI36
NC_000011.9:g.67257787G>T , CM000673.1:g.67257787G>T GRCh37
NG_008969.1:g.12283G>T , LRG_460:g.12283G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000279146.7:c.646G>T ENSP00000279146.3:p.Glu216Ter
ENST00000525341.1:n.298G>T ENSP00000476993.1:p.Glu100Ter
ENST00000528641.6:c.457G>T ENSP00000434982.2:p.Glu153Ter
NM_001302959.1:c.469G>T VV NP_001289888.1:p.Glu157Ter
NM_001302960.1:c.646G>T VV NP_001289889.1:p.Glu216Ter
NM_003977.3:c.646G>T VV NP_003968.3:p.Glu216Ter