Canonical Allele Identifier: CA381551943
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490450G>T , CM000673.2:g.67490450G>T GRCh38
NC_000011.9:g.67257921G>T , CM000673.1:g.67257921G>T GRCh37
NC_000011.8:g.67014497G>T NCBI36
NG_008969.1:g.12417G>T , LRG_460:g.12417G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.757G>T
ENST00000528641.7:c.591G>T ENSP00000434982.3:p.Lys197Asn
ENST00000529797.2:n.1292G>T
ENST00000682324.1:c.469-547G>T ENSP00000508017.1:n.469-547G>T
ENST00000682659.1:c.411G>T ENSP00000507351.1:p.Lys137Asn
ENST00000682699.1:c.780G>T ENSP00000507935.1:p.Lys260Asn
ENST00000683237.1:c.779+1G>T ENSP00000507343.1:n.779+1G>T
ENST00000683856.1:c.603G>T ENSP00000507979.1:p.Lys201Asn
ENST00000684006.1:c.780G>T ENSP00000507269.1:p.Lys260Asn
ENST00000684657.1:c.600G>T ENSP00000507961.1:p.Lys200Asn
ENST00000279146.8:c.780G>T MANE Select ENSP00000279146.3:p.Lys260Asn
ENST00000279146.7:c.780G>T ENSP00000279146.3:p.Lys260Asn
ENST00000525341.1:c.432G>T ENSP00000476993.1:p.Lys144Asn
ENST00000528641.6:c.591G>T ENSP00000434982.2:p.Lys197Asn
NM_001302959.1:c.603G>T NP_001289888.1:p.Lys201Asn
NM_001302960.1:c.779+1G>T NP_001289889.1:n.779+1G>T
NM_003977.3:c.780G>T NP_003968.3:p.Lys260Asn
XM_024448761.1:c.780G>T XP_024304529.1:p.Lys260Asn
NM_003977.4:c.780G>T MANE Select NP_003968.3:p.Lys260Asn
NM_001302960.2:c.779+1G>T NP_001289889.1:n.779+1G>T
NM_001302959.2:c.603G>T NP_001289888.1:p.Lys201Asn