Canonical Allele Identifier: CA381551896
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490428A>T , CM000673.2:g.67490428A>T GRCh38
NC_000011.9:g.67257899A>T , CM000673.1:g.67257899A>T GRCh37
NC_000011.8:g.67014475A>T NCBI36
NG_008969.1:g.12395A>T , LRG_460:g.12395A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.735A>T
ENST00000528641.7:c.569A>T ENSP00000434982.3:p.His190Leu
ENST00000529797.2:n.1270A>T
ENST00000682324.1:c.469-569A>T ENSP00000508017.1:n.469-569A>T
ENST00000682659.1:c.389A>T ENSP00000507351.1:p.His130Leu
ENST00000682699.1:c.758A>T ENSP00000507935.1:p.His253Leu
ENST00000683237.1:c.758A>T ENSP00000507343.1:p.His253Leu
ENST00000683856.1:c.581A>T ENSP00000507979.1:p.His194Leu
ENST00000684006.1:c.758A>T ENSP00000507269.1:p.His253Leu
ENST00000684657.1:c.578A>T ENSP00000507961.1:p.His193Leu
ENST00000279146.8:c.758A>T MANE Select ENSP00000279146.3:p.His253Leu
ENST00000279146.7:c.758A>T ENSP00000279146.3:p.His253Leu
ENST00000525341.1:c.410A>T ENSP00000476993.1:p.His137Leu
ENST00000528641.6:c.569A>T ENSP00000434982.2:p.His190Leu
NM_001302959.1:c.581A>T NP_001289888.1:p.His194Leu
NM_001302960.1:c.758A>T NP_001289889.1:p.His253Leu
NM_003977.3:c.758A>T NP_003968.3:p.His253Leu
XM_024448761.1:c.758A>T XP_024304529.1:p.His253Leu
NM_003977.4:c.758A>T MANE Select NP_003968.3:p.His253Leu
NM_001302960.2:c.758A>T NP_001289889.1:p.His253Leu
NM_001302959.2:c.581A>T NP_001289888.1:p.His194Leu