Canonical Allele Identifier: CA344075
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41167
ClinVar RCV Id: RCV000034066
dbSNP Id: rs267606541

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67487147C>T , CM000673.2:g.67487147C>T GRCh38
NC_000011.9:g.67254618C>T , CM000673.1:g.67254618C>T GRCh37
NC_000011.8:g.67011194C>T NCBI36
NG_008969.1:g.9114C>T , LRG_460:g.9114C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000279146.8:c.241C>T MANE Select ENSP00000279146.3:p.Arg81Ter
ENST00000279146.7:c.241C>T ENSP00000279146.3:p.Arg81Ter
ENST00000528641.6:c.241C>T ENSP00000434982.2:p.Arg81Ter
ENST00000529797.1:n.351C>T
NM_001302959.1:c.64C>T NP_001289888.1:p.Arg22Ter
NM_001302960.1:c.241C>T NP_001289889.1:p.Arg81Ter
NM_003977.3:c.241C>T NP_003968.3:p.Arg81Ter
XM_024448761.1:c.241C>T XP_024304529.1:p.Arg81Ter
NM_003977.4:c.241C>T MANE Select NP_003968.3:p.Arg81Ter
NM_001302960.2:c.241C>T NP_001289889.1:p.Arg81Ter
NM_001302959.2:c.64C>T NP_001289888.1:p.Arg22Ter