Canonical Allele Identifier: CA224166060

Gene: AIP

Linked Data

• ClinVar Variation Id: 823287
• ClinVar RCV Id: RCV001019413 ; RCV001212933 ; RCV001543119 ; RCV002254716
• dbSNP Id: rs145025838
• gnomAD v4: 11-67490949-G-T
• MyVariant Identifiers: chr11:g.67258420G>T (hg19) ; chr11:g.67490949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490949G>T , CM000673.2:g.67490949G>T	GRCh38
NC_000011.9:g.67258420G>T , CM000673.1:g.67258420G>T	GRCh37
NC_000011.8:g.67014996G>T	NCBI36
NG_008969.1:g.12916G>T , LRG_460:g.12916G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1256G>T
ENST00000528641.7:c.760G>T	ENSP00000434982.3:p.Asp254Tyr
ENST00000529797.2:n.1791G>T
ENST00000682324.1:c.469-48G>T	ENSP00000508017.1:n.469-48G>T
ENST00000682659.1:c.580G>T	ENSP00000507351.1:p.Asp194Tyr
ENST00000683237.1:c.*89G>T	ENSP00000507343.1:n.*89G>T
ENST00000683856.1:c.772G>T	ENSP00000507979.1:p.Asp258Tyr
ENST00000684006.1:c.*89G>T	ENSP00000507269.1:n.*89G>T
ENST00000684657.1:c.769G>T	ENSP00000507961.1:p.Asp257Tyr
ENST00000279146.8:c.949G>T MANE Select	ENSP00000279146.3:p.Asp317Tyr
ENST00000279146.7:c.949G>T	ENSP00000279146.3:p.Asp317Tyr
NM_001302959.1:c.772G>T	NP_001289888.1:p.Asp258Tyr
NM_001302960.1:c.*89G>T	NP_001289889.1:n.*89G>T
NM_003977.3:c.949G>T	NP_003968.3:p.Asp317Tyr
XM_024448761.1:c.949G>T	XP_024304529.1:p.Asp317Tyr
NM_003977.4:c.949G>T MANE Select	NP_003968.3:p.Asp317Tyr
NM_001302960.2:c.*89G>T	NP_001289889.1:n.*89G>T
NM_001302959.2:c.772G>T	NP_001289888.1:p.Asp258Tyr