Canonical Allele Identifier: CA6140960

Gene: AIP

Linked Data

• dbSNP Id: rs769596799
• ExAC: 11:67258045 G / T
• gnomAD v2: 11-67258045-G-T
• gnomAD v3: 11-67490574-G-T
• gnomAD v4: 11-67490574-G-T
• MyVariant Identifiers: chr11:g.67258045G>T (hg19) ; chr11:g.67490574G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490574G>T , CM000673.2:g.67490574G>T	GRCh38
NC_000011.9:g.67258045G>T , CM000673.1:g.67258045G>T	GRCh37
NC_000011.8:g.67014621G>T	NCBI36
NG_008969.1:g.12541G>T , LRG_460:g.12541G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.881G>T
ENST00000528641.7:c.598+117G>T	ENSP00000434982.3:n.598+117G>T
ENST00000529797.2:n.1416G>T
ENST00000682324.1:c.469-423G>T	ENSP00000508017.1:n.469-423G>T
ENST00000682659.1:c.418+117G>T	ENSP00000507351.1:n.418+117G>T
ENST00000682699.1:c.787+117G>T	ENSP00000507935.1:n.787+117G>T
ENST00000683237.1:c.779+125G>T	ENSP00000507343.1:n.779+125G>T
ENST00000683856.1:c.610+117G>T	ENSP00000507979.1:n.610+117G>T
ENST00000684006.1:c.787+117G>T	ENSP00000507269.1:n.787+117G>T
ENST00000684657.1:c.607+117G>T	ENSP00000507961.1:n.607+117G>T
ENST00000279146.8:c.787+117G>T MANE Select	ENSP00000279146.3:n.787+117G>T
ENST00000279146.7:c.787+117G>T	ENSP00000279146.3:n.787+117G>T
ENST00000525341.1:c.556G>T	ENSP00000476993.1:p.Gly186Trp
ENST00000528641.6:c.598+117G>T	ENSP00000434982.2:n.598+117G>T
NM_001302959.1:c.610+117G>T	NP_001289888.1:n.610+117G>T
NM_001302960.1:c.779+125G>T	NP_001289889.1:n.779+125G>T
NM_003977.3:c.787+117G>T	NP_003968.3:n.787+117G>T
XM_024448761.1:c.787+117G>T	XP_024304529.1:n.787+117G>T
NM_003977.4:c.787+117G>T MANE Select	NP_003968.3:n.787+117G>T
NM_001302960.2:c.779+125G>T	NP_001289889.1:n.779+125G>T
NM_001302959.2:c.610+117G>T	NP_001289888.1:n.610+117G>T