Canonical Allele Identifier: CA381550280

Gene: AIP

Linked Data

• ClinVar Variation Id: 962699
• ClinVar RCV Id: RCV001236604 ; RCV002339652
• dbSNP Id: rs1865868625
• gnomAD v4: 11-67490047-C-A
• MyVariant Identifiers: chr11:g.67257518C>A (hg19) ; chr11:g.67490047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490047C>A , CM000673.2:g.67490047C>A	GRCh38
NC_000011.9:g.67257518C>A , CM000673.1:g.67257518C>A	GRCh37
NC_000011.8:g.67014094C>A	NCBI36
NG_008969.1:g.12014C>A , LRG_460:g.12014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.455C>A
ENST00000528641.7:c.289C>A	ENSP00000434982.3:p.Pro97Thr
ENST00000529797.2:n.990C>A
ENST00000682324.1:c.468+592C>A	ENSP00000508017.1:n.468+592C>A
ENST00000682659.1:c.109C>A	ENSP00000507351.1:p.Pro37Thr
ENST00000682699.1:c.478C>A	ENSP00000507935.1:p.Pro160Thr
ENST00000683237.1:c.478C>A	ENSP00000507343.1:p.Pro160Thr
ENST00000683856.1:c.301C>A	ENSP00000507979.1:p.Pro101Thr
ENST00000684006.1:c.478C>A	ENSP00000507269.1:p.Pro160Thr
ENST00000684657.1:c.298C>A	ENSP00000507961.1:p.Pro100Thr
ENST00000279146.8:c.478C>A MANE Select	ENSP00000279146.3:p.Pro160Thr
ENST00000279146.7:c.478C>A	ENSP00000279146.3:p.Pro160Thr
ENST00000525341.1:c.130C>A	ENSP00000476993.1:p.Pro44Thr
ENST00000528641.6:c.289C>A	ENSP00000434982.2:p.Pro97Thr
NM_001302959.1:c.301C>A	NP_001289888.1:p.Pro101Thr
NM_001302960.1:c.478C>A	NP_001289889.1:p.Pro160Thr
NM_003977.3:c.478C>A	NP_003968.3:p.Pro160Thr
XM_024448761.1:c.478C>A	XP_024304529.1:p.Pro160Thr
NM_003977.4:c.478C>A MANE Select	NP_003968.3:p.Pro160Thr
NM_001302960.2:c.478C>A	NP_001289889.1:p.Pro160Thr
NM_001302959.2:c.301C>A	NP_001289888.1:p.Pro101Thr