Canonical Allele Identifier: CA381554886

Gene: AIP

Linked Data

• ClinVar Variation Id: 1034759
• ClinVar RCV Id: RCV001337527 ; RCV002412053
• dbSNP Id: rs1344254895
• MyVariant Identifiers: chr11:g.67258327G>A (hg19) ; chr11:g.67490856G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490856G>A , CM000673.2:g.67490856G>A	GRCh38
NC_000011.9:g.67258327G>A , CM000673.1:g.67258327G>A	GRCh37
NC_000011.8:g.67014903G>A	NCBI36
NG_008969.1:g.12823G>A , LRG_460:g.12823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1163G>A
ENST00000528641.7:c.667G>A	ENSP00000434982.3:p.Ala223Thr
ENST00000529797.2:n.1698G>A
ENST00000682324.1:c.469-141G>A	ENSP00000508017.1:n.469-141G>A
ENST00000682659.1:c.487G>A	ENSP00000507351.1:p.Ala163Thr
ENST00000682699.1:c.856G>A	ENSP00000507935.1:p.Ala286Thr
ENST00000683237.1:c.848G>A	ENSP00000507343.1:p.Gly283Asp
ENST00000683856.1:c.679G>A	ENSP00000507979.1:p.Ala227Thr
ENST00000684006.1:c.845G>A	ENSP00000507269.1:p.Gly282Asp
ENST00000684657.1:c.676G>A	ENSP00000507961.1:p.Ala226Thr
ENST00000279146.8:c.856G>A MANE Select	ENSP00000279146.3:p.Ala286Thr
ENST00000279146.7:c.856G>A	ENSP00000279146.3:p.Ala286Thr
ENST00000528641.6:c.667G>A	ENSP00000434982.2:p.Ala223Thr
NM_001302959.1:c.679G>A	NP_001289888.1:p.Ala227Thr
NM_001302960.1:c.848G>A	NP_001289889.1:p.Gly283Asp
NM_003977.3:c.856G>A	NP_003968.3:p.Ala286Thr
XM_024448761.1:c.856G>A	XP_024304529.1:p.Ala286Thr
NM_003977.4:c.856G>A MANE Select	NP_003968.3:p.Ala286Thr
NM_001302960.2:c.848G>A	NP_001289889.1:p.Gly283Asp
NM_001302959.2:c.679G>A	NP_001289888.1:p.Ala227Thr