Canonical Allele Identifier: CA344205
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 41212
dbSNP Id: rs267606581

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490829G>C , CM000673.2:g.67490829G>C GRCh38
NC_000011.9:g.67258300G>C , CM000673.1:g.67258300G>C GRCh37
NC_000011.8:g.67014876G>C NCBI36
NG_008969.1:g.12796G>C , LRG_460:g.12796G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.1136G>C
ENST00000528641.7:c.640G>C ENSP00000434982.3:p.Ala214Pro
ENST00000529797.2:n.1671G>C
ENST00000682324.1:c.469-168G>C ENSP00000508017.1:n.469-168G>C
ENST00000682659.1:c.460G>C ENSP00000507351.1:p.Ala154Pro
ENST00000682699.1:c.829G>C ENSP00000507935.1:p.Ala277Pro
ENST00000683237.1:c.821G>C ENSP00000507343.1:p.Gly274Ala
ENST00000683856.1:c.652G>C ENSP00000507979.1:p.Ala218Pro
ENST00000684006.1:c.818G>C ENSP00000507269.1:p.Gly273Ala
ENST00000684657.1:c.649G>C ENSP00000507961.1:p.Ala217Pro
ENST00000279146.8:c.829G>C MANE Select ENSP00000279146.3:p.Ala277Pro
ENST00000279146.7:c.829G>C ENSP00000279146.3:p.Ala277Pro
ENST00000528641.6:c.640G>C ENSP00000434982.2:p.Ala214Pro
NM_001302959.1:c.652G>C NP_001289888.1:p.Ala218Pro
NM_001302960.1:c.821G>C NP_001289889.1:p.Gly274Ala
NM_003977.3:c.829G>C NP_003968.3:p.Ala277Pro
XM_024448761.1:c.829G>C XP_024304529.1:p.Ala277Pro
NM_003977.4:c.829G>C MANE Select NP_003968.3:p.Ala277Pro
NM_001302960.2:c.821G>C NP_001289889.1:p.Gly274Ala
NM_001302959.2:c.652G>C NP_001289888.1:p.Ala218Pro