Canonical Allele Identifier: CA381554279

Gene: AIP

Linked Data

• ClinVar Variation Id: 1058143
• ClinVar RCV Id: RCV001367240 ; RCV002420812
• dbSNP Id: rs2134256373
• MyVariant Identifiers: chr11:g.67258261A>G (hg19) ; chr11:g.67490790A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490790A>G , CM000673.2:g.67490790A>G	GRCh38
NC_000011.9:g.67258261A>G , CM000673.1:g.67258261A>G	GRCh37
NC_000011.8:g.67014837A>G	NCBI36
NG_008969.1:g.12757A>G , LRG_460:g.12757A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1097A>G
ENST00000528641.7:c.601A>G	ENSP00000434982.3:p.Asn201Asp
ENST00000529797.2:n.1632A>G
ENST00000682324.1:c.469-207A>G	ENSP00000508017.1:n.469-207A>G
ENST00000682659.1:c.421A>G	ENSP00000507351.1:p.Asn141Asp
ENST00000682699.1:c.790A>G	ENSP00000507935.1:p.Asn264Asp
ENST00000683237.1:c.782A>G	ENSP00000507343.1:p.Gln261Arg
ENST00000683856.1:c.613A>G	ENSP00000507979.1:p.Asn205Asp
ENST00000684006.1:c.788-9A>G	ENSP00000507269.1:n.788-9A>G
ENST00000684657.1:c.610A>G	ENSP00000507961.1:p.Asn204Asp
ENST00000279146.8:c.790A>G MANE Select	ENSP00000279146.3:p.Asn264Asp
ENST00000279146.7:c.790A>G	ENSP00000279146.3:p.Asn264Asp
ENST00000528641.6:c.601A>G	ENSP00000434982.2:p.Asn201Asp
NM_001302959.1:c.613A>G	NP_001289888.1:p.Asn205Asp
NM_001302960.1:c.782A>G	NP_001289889.1:p.Gln261Arg
NM_003977.3:c.790A>G	NP_003968.3:p.Asn264Asp
XM_024448761.1:c.790A>G	XP_024304529.1:p.Asn264Asp
NM_003977.4:c.790A>G MANE Select	NP_003968.3:p.Asn264Asp
NM_001302960.2:c.782A>G	NP_001289889.1:p.Gln261Arg
NM_001302959.2:c.613A>G	NP_001289888.1:p.Asn205Asp