Canonical Allele Identifier: CA224165084

Gene: AIP

Linked Data

• ClinVar Variation Id: 1156824
• ClinVar RCV Id: RCV001499615 ; RCV002256806
• dbSNP Id: rs937672207
• gnomAD v3: 11-67490199-G-A
• gnomAD v4: 11-67490199-G-A
• MyVariant Identifiers: chr11:g.67257670G>A (hg19) ; chr11:g.67490199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490199G>A , CM000673.2:g.67490199G>A	GRCh38
NC_000011.9:g.67257670G>A , CM000673.1:g.67257670G>A	GRCh37
NC_000011.8:g.67014246G>A	NCBI36
NG_008969.1:g.12166G>A , LRG_460:g.12166G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.607G>A
ENST00000528641.7:c.441G>A	ENSP00000434982.3:p.Lys147=
ENST00000529797.2:n.1142G>A
ENST00000682324.1:c.468+744G>A	ENSP00000508017.1:n.468+744G>A
ENST00000682659.1:c.261G>A	ENSP00000507351.1:p.Lys87=
ENST00000682699.1:c.630G>A	ENSP00000507935.1:p.Lys210=
ENST00000683237.1:c.630G>A	ENSP00000507343.1:p.Lys210=
ENST00000683856.1:c.453G>A	ENSP00000507979.1:p.Lys151=
ENST00000684006.1:c.630G>A	ENSP00000507269.1:p.Lys210=
ENST00000684657.1:c.450G>A	ENSP00000507961.1:p.Lys150=
ENST00000279146.8:c.630G>A MANE Select	ENSP00000279146.3:p.Lys210=
ENST00000279146.7:c.630G>A	ENSP00000279146.3:p.Lys210=
ENST00000525341.1:c.282G>A	ENSP00000476993.1:p.Lys94=
ENST00000528641.6:c.441G>A	ENSP00000434982.2:p.Lys147=
NM_001302959.1:c.453G>A	NP_001289888.1:p.Lys151=
NM_001302960.1:c.630G>A	NP_001289889.1:p.Lys210=
NM_003977.3:c.630G>A	NP_003968.3:p.Lys210=
XM_024448761.1:c.630G>A	XP_024304529.1:p.Lys210=
NM_003977.4:c.630G>A MANE Select	NP_003968.3:p.Lys210=
NM_001302960.2:c.630G>A	NP_001289889.1:p.Lys210=
NM_001302959.2:c.453G>A	NP_001289888.1:p.Lys151=