Canonical Allele Identifier: CA344215
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41216
dbSNP Id: rs267606586

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490965C>T , CM000673.2:g.67490965C>T GRCh38
NC_000011.9:g.67258436C>T , CM000673.1:g.67258436C>T GRCh37
NC_000011.8:g.67015012C>T NCBI36
NG_008969.1:g.12932C>T , LRG_460:g.12932C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000279146.8:c.965C>T MANE Select ENSP00000279146.3:p.Ala322Val
ENST00000279146.7:c.965C>T ENSP00000279146.3:p.Ala322Val
NM_001302959.1:c.788C>T NP_001289888.1:p.Ala263Val
NM_001302960.1:c.*105C>T NP_001289889.1:p.=
NM_003977.3:c.965C>T NP_003968.3:p.Ala322Val
XM_024448761.1:c.965C>T XP_024304529.1:p.Ala322Val
NM_003977.4:c.965C>T MANE Select NP_003968.3:p.Ala322Val
NM_001302960.2:c.*105C>T NP_001289889.1:p.=
NM_001302959.2:c.788C>T NP_001289888.1:p.Ala263Val