Canonical Allele Identifier: CA6140738

Gene: AIP

Linked Data

• ClinVar Variation Id: 1500478
• ClinVar RCV Id: RCV002015680 ; RCV002258355
• dbSNP Id: rs776120855
• ExAC: 11:67254532 A / G
• gnomAD v2: 11-67254532-A-G
• gnomAD v3: 11-67487061-A-G
• gnomAD v4: 11-67487061-A-G
• MyVariant Identifiers: chr11:g.67254532A>G (hg19) ; chr11:g.67487061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487061A>G , CM000673.2:g.67487061A>G	GRCh38
NC_000011.9:g.67254532A>G , CM000673.1:g.67254532A>G	GRCh37
NC_000011.8:g.67011108A>G	NCBI36
NG_008969.1:g.9028A>G , LRG_460:g.9028A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.132A>G
ENST00000528641.7:c.155A>G	ENSP00000434982.3:p.Asp52Gly
ENST00000529797.2:n.85A>G
ENST00000682324.1:c.155A>G	ENSP00000508017.1:p.Asp52Gly
ENST00000682659.1:c.100-2977A>G	ENSP00000507351.1:n.100-2977A>G
ENST00000682699.1:c.155A>G	ENSP00000507935.1:p.Asp52Gly
ENST00000683237.1:c.155A>G	ENSP00000507343.1:p.Asp52Gly
ENST00000683856.1:c.-23A>G	ENSP00000507979.1:n.-23A>G
ENST00000684006.1:c.155A>G	ENSP00000507269.1:p.Asp52Gly
ENST00000684657.1:c.100-2206A>G	ENSP00000507961.1:n.100-2206A>G
ENST00000279146.8:c.155A>G MANE Select	ENSP00000279146.3:p.Asp52Gly
ENST00000279146.7:c.155A>G	ENSP00000279146.3:p.Asp52Gly
ENST00000528641.6:c.155A>G	ENSP00000434982.2:p.Asp52Gly
ENST00000529797.1:n.265A>G
NM_001302959.1:c.-23A>G	NP_001289888.1:n.-23A>G
NM_001302960.1:c.155A>G	NP_001289889.1:p.Asp52Gly
NM_003977.3:c.155A>G	NP_003968.3:p.Asp52Gly
XM_024448761.1:c.155A>G	XP_024304529.1:p.Asp52Gly
NM_003977.4:c.155A>G MANE Select	NP_003968.3:p.Asp52Gly
NM_001302960.2:c.155A>G	NP_001289889.1:p.Asp52Gly
NM_001302959.2:c.-23A>G	NP_001289888.1:n.-23A>G