Canonical Allele Identifier: CA381547208

Gene: AIP

Linked Data

• ClinVar Variation Id: 821263
• ClinVar RCV Id: RCV001015506 ; RCV001302267
• dbSNP Id: rs1178603157
• gnomAD v3: 11-67487148-G-A
• gnomAD v4: 11-67487148-G-A
• MyVariant Identifiers: chr11:g.67254619G>A (hg19) ; chr11:g.67487148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487148G>A , CM000673.2:g.67487148G>A	GRCh38
NC_000011.9:g.67254619G>A , CM000673.1:g.67254619G>A	GRCh37
NC_000011.8:g.67011195G>A	NCBI36
NG_008969.1:g.9115G>A , LRG_460:g.9115G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.219G>A
ENST00000528641.7:c.242G>A	ENSP00000434982.3:p.Arg81Gln
ENST00000529797.2:n.172G>A
ENST00000682324.1:c.242G>A	ENSP00000508017.1:p.Arg81Gln
ENST00000682659.1:c.100-2890G>A	ENSP00000507351.1:n.100-2890G>A
ENST00000682699.1:c.242G>A	ENSP00000507935.1:p.Arg81Gln
ENST00000683237.1:c.242G>A	ENSP00000507343.1:p.Arg81Gln
ENST00000683856.1:c.65G>A	ENSP00000507979.1:p.Arg22Gln
ENST00000684006.1:c.242G>A	ENSP00000507269.1:p.Arg81Gln
ENST00000684657.1:c.100-2119G>A	ENSP00000507961.1:n.100-2119G>A
ENST00000279146.8:c.242G>A MANE Select	ENSP00000279146.3:p.Arg81Gln
ENST00000279146.7:c.242G>A	ENSP00000279146.3:p.Arg81Gln
ENST00000528641.6:c.242G>A	ENSP00000434982.2:p.Arg81Gln
ENST00000529797.1:n.352G>A
NM_001302959.1:c.65G>A	NP_001289888.1:p.Arg22Gln
NM_001302960.1:c.242G>A	NP_001289889.1:p.Arg81Gln
NM_003977.3:c.242G>A	NP_003968.3:p.Arg81Gln
XM_024448761.1:c.242G>A	XP_024304529.1:p.Arg81Gln
NM_003977.4:c.242G>A MANE Select	NP_003968.3:p.Arg81Gln
NM_001302960.2:c.242G>A	NP_001289889.1:p.Arg81Gln
NM_001302959.2:c.65G>A	NP_001289888.1:p.Arg22Gln