Canonical Allele Identifier: CA381551791
Gene: AIP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490400G>C , CM000673.2:g.67490400G>C GRCh38
NC_000011.9:g.67257871G>C , CM000673.1:g.67257871G>C GRCh37
NC_000011.8:g.67014447G>C NCBI36
NG_008969.1:g.12367G>C , LRG_460:g.12367G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.707G>C
ENST00000528641.7:c.541G>C ENSP00000434982.3:p.Val181Leu
ENST00000529797.2:n.1242G>C
ENST00000682324.1:c.469-597G>C ENSP00000508017.1:n.469-597G>C
ENST00000682659.1:c.361G>C ENSP00000507351.1:p.Val121Leu
ENST00000682699.1:c.730G>C ENSP00000507935.1:p.Val244Leu
ENST00000683237.1:c.730G>C ENSP00000507343.1:p.Val244Leu
ENST00000683856.1:c.553G>C ENSP00000507979.1:p.Val185Leu
ENST00000684006.1:c.730G>C ENSP00000507269.1:p.Val244Leu
ENST00000684657.1:c.550G>C ENSP00000507961.1:p.Val184Leu
ENST00000279146.8:c.730G>C MANE Select ENSP00000279146.3:p.Val244Leu
ENST00000279146.7:c.730G>C ENSP00000279146.3:p.Val244Leu
ENST00000525341.1:c.382G>C ENSP00000476993.1:p.Val128Leu
ENST00000528641.6:c.541G>C ENSP00000434982.2:p.Val181Leu
NM_001302959.1:c.553G>C NP_001289888.1:p.Val185Leu
NM_001302960.1:c.730G>C NP_001289889.1:p.Val244Leu
NM_003977.3:c.730G>C NP_003968.3:p.Val244Leu
XM_024448761.1:c.730G>C XP_024304529.1:p.Val244Leu
NM_003977.4:c.730G>C MANE Select NP_003968.3:p.Val244Leu
NM_001302960.2:c.730G>C NP_001289889.1:p.Val244Leu
NM_001302959.2:c.553G>C NP_001289888.1:p.Val185Leu