Canonical Allele Identifier: CA10631377

Gene: AIP

Linked Data

• ClinVar Variation Id: 305727
• ClinVar RCV Id: RCV000325034 ; RCV001859818 ; RCV002338880
• dbSNP Id: rs868823652
• gnomAD v3: 11-67489458-G-A
• gnomAD v4: 11-67489458-G-A
• MyVariant Identifiers: chr11:g.67256929G>A (hg19) ; chr11:g.67489458G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67489458G>A , CM000673.2:g.67489458G>A	GRCh38
NC_000011.9:g.67256929G>A , CM000673.1:g.67256929G>A	GRCh37
NC_000011.8:g.67013505G>A	NCBI36
NG_008969.1:g.11425G>A , LRG_460:g.11425G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.445+3G>A
ENST00000528641.7:c.280-580G>A	ENSP00000434982.3:n.280-580G>A
ENST00000529797.2:n.401G>A
ENST00000682324.1:c.468+3G>A	ENSP00000508017.1:n.468+3G>A
ENST00000682659.1:c.100-580G>A	ENSP00000507351.1:n.100-580G>A
ENST00000682699.1:c.468+3G>A	ENSP00000507935.1:n.468+3G>A
ENST00000683237.1:c.468+3G>A	ENSP00000507343.1:n.468+3G>A
ENST00000683856.1:c.291+3G>A	ENSP00000507979.1:n.291+3G>A
ENST00000684006.1:c.468+3G>A	ENSP00000507269.1:n.468+3G>A
ENST00000684657.1:c.288+3G>A	ENSP00000507961.1:n.288+3G>A
ENST00000279146.8:c.468+3G>A MANE Select	ENSP00000279146.3:n.468+3G>A
ENST00000279146.7:c.468+3G>A	ENSP00000279146.3:n.468+3G>A
ENST00000525341.1:c.120+3G>A	ENSP00000476993.1:n.120+3G>A
ENST00000528641.6:c.280-580G>A	ENSP00000434982.2:n.280-580G>A
ENST00000529797.1:n.581G>A
NM_001302959.1:c.291+3G>A	NP_001289888.1:n.291+3G>A
NM_001302960.1:c.468+3G>A	NP_001289889.1:n.468+3G>A
NM_003977.3:c.468+3G>A	NP_003968.3:n.468+3G>A
XM_024448761.1:c.468+3G>A	XP_024304529.1:n.468+3G>A
NM_003977.4:c.468+3G>A MANE Select	NP_003968.3:n.468+3G>A
NM_001302960.2:c.468+3G>A	NP_001289889.1:n.468+3G>A
NM_001302959.2:c.291+3G>A	NP_001289888.1:n.291+3G>A