Canonical Allele Identifier: CA381545744
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1794911
ClinVar RCV Id: RCV002437391

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67483184G>T , CM000673.2:g.67483184G>T GRCh38
NC_000011.9:g.67250655G>T , CM000673.1:g.67250655G>T GRCh37
NC_000011.8:g.67007231G>T NCBI36
NG_008969.1:g.5151G>T , LRG_460:g.5151G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.3G>T
ENST00000528641.7:c.26G>T ENSP00000434982.3:p.Arg9Leu
ENST00000682324.1:c.26G>T ENSP00000508017.1:p.Arg9Leu
ENST00000682659.1:c.26G>T ENSP00000507351.1:p.Arg9Leu
ENST00000682699.1:c.26G>T ENSP00000507935.1:p.Arg9Leu
ENST00000683237.1:c.26G>T ENSP00000507343.1:p.Arg9Leu
ENST00000684006.1:c.26G>T ENSP00000507269.1:p.Arg9Leu
ENST00000684657.1:c.26G>T ENSP00000507961.1:p.Arg9Leu
ENST00000279146.8:c.26G>T MANE Select ENSP00000279146.3:p.Arg9Leu
ENST00000279146.7:c.26G>T ENSP00000279146.3:p.Arg9Leu
ENST00000528641.6:c.26G>T ENSP00000434982.2:p.Arg9Leu
ENST00000529797.1:n.136G>T
NM_001302960.1:c.26G>T NP_001289889.1:p.Arg9Leu
NM_003977.3:c.26G>T NP_003968.3:p.Arg9Leu
XM_024448761.1:c.26G>T XP_024304529.1:p.Arg9Leu
NM_003977.4:c.26G>T MANE Select NP_003968.3:p.Arg9Leu
NM_001302960.2:c.26G>T NP_001289889.1:p.Arg9Leu