Canonical Allele Identifier: CA381550554

Gene: AIP

Linked Data

• dbSNP Id: rs1397590017
• gnomAD v2: 11-67257559-A-T
• gnomAD v4: 11-67490088-A-T
• MyVariant Identifiers: chr11:g.67257559A>T (hg19) ; chr11:g.67490088A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490088A>T , CM000673.2:g.67490088A>T	GRCh38
NC_000011.9:g.67257559A>T , CM000673.1:g.67257559A>T	GRCh37
NC_000011.8:g.67014135A>T	NCBI36
NG_008969.1:g.12055A>T , LRG_460:g.12055A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.496A>T
ENST00000528641.7:c.330A>T	ENSP00000434982.3:p.Glu110Asp
ENST00000529797.2:n.1031A>T
ENST00000682324.1:c.468+633A>T	ENSP00000508017.1:n.468+633A>T
ENST00000682659.1:c.150A>T	ENSP00000507351.1:p.Glu50Asp
ENST00000682699.1:c.519A>T	ENSP00000507935.1:p.Glu173Asp
ENST00000683237.1:c.519A>T	ENSP00000507343.1:p.Glu173Asp
ENST00000683856.1:c.342A>T	ENSP00000507979.1:p.Glu114Asp
ENST00000684006.1:c.519A>T	ENSP00000507269.1:p.Glu173Asp
ENST00000684657.1:c.339A>T	ENSP00000507961.1:p.Glu113Asp
ENST00000279146.8:c.519A>T MANE Select	ENSP00000279146.3:p.Glu173Asp
ENST00000279146.7:c.519A>T	ENSP00000279146.3:p.Glu173Asp
ENST00000525341.1:c.171A>T	ENSP00000476993.1:p.Glu57Asp
ENST00000528641.6:c.330A>T	ENSP00000434982.2:p.Glu110Asp
NM_001302959.1:c.342A>T	NP_001289888.1:p.Glu114Asp
NM_001302960.1:c.519A>T	NP_001289889.1:p.Glu173Asp
NM_003977.3:c.519A>T	NP_003968.3:p.Glu173Asp
XM_024448761.1:c.519A>T	XP_024304529.1:p.Glu173Asp
NM_003977.4:c.519A>T MANE Select	NP_003968.3:p.Glu173Asp
NM_001302960.2:c.519A>T	NP_001289889.1:p.Glu173Asp
NM_001302959.2:c.342A>T	NP_001289888.1:p.Glu114Asp