Canonical Allele Identifier: CA6140872

Gene: AIP

Linked Data

• ClinVar Variation Id: 485067
• ClinVar RCV Id: RCV000572204 ; RCV001065648
• dbSNP Id: rs141826817
• ExAC: 11:67257612 G / A
• gnomAD v2: 11-67257612-G-A
• gnomAD v3: 11-67490141-G-A
• gnomAD v4: 11-67490141-G-A
• MyVariant Identifiers: chr11:g.67257612G>A (hg19) ; chr11:g.67490141G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490141G>A , CM000673.2:g.67490141G>A	GRCh38
NC_000011.9:g.67257612G>A , CM000673.1:g.67257612G>A	GRCh37
NC_000011.8:g.67014188G>A	NCBI36
NG_008969.1:g.12108G>A , LRG_460:g.12108G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.549G>A
ENST00000528641.7:c.383G>A	ENSP00000434982.3:p.Arg128His
ENST00000529797.2:n.1084G>A
ENST00000682324.1:c.468+686G>A	ENSP00000508017.1:n.468+686G>A
ENST00000682659.1:c.203G>A	ENSP00000507351.1:p.Arg68His
ENST00000682699.1:c.572G>A	ENSP00000507935.1:p.Arg191His
ENST00000683237.1:c.572G>A	ENSP00000507343.1:p.Arg191His
ENST00000683856.1:c.395G>A	ENSP00000507979.1:p.Arg132His
ENST00000684006.1:c.572G>A	ENSP00000507269.1:p.Arg191His
ENST00000684657.1:c.392G>A	ENSP00000507961.1:p.Arg131His
ENST00000279146.8:c.572G>A MANE Select	ENSP00000279146.3:p.Arg191His
ENST00000279146.7:c.572G>A	ENSP00000279146.3:p.Arg191His
ENST00000525341.1:c.224G>A	ENSP00000476993.1:p.Arg75His
ENST00000528641.6:c.383G>A	ENSP00000434982.2:p.Arg128His
NM_001302959.1:c.395G>A	NP_001289888.1:p.Arg132His
NM_001302960.1:c.572G>A	NP_001289889.1:p.Arg191His
NM_003977.3:c.572G>A	NP_003968.3:p.Arg191His
XM_024448761.1:c.572G>A	XP_024304529.1:p.Arg191His
NM_003977.4:c.572G>A MANE Select	NP_003968.3:p.Arg191His
NM_001302960.2:c.572G>A	NP_001289889.1:p.Arg191His
NM_001302959.2:c.395G>A	NP_001289888.1:p.Arg132His