Canonical Allele Identifier: CA381551023

Gene: AIP

Linked Data

• ClinVar Variation Id: 1357170
• ClinVar RCV Id: RCV001870465
• dbSNP Id: rs202006716
• MyVariant Identifiers: chr11:g.67257631G>T (hg19) ; chr11:g.67490160G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490160G>T , CM000673.2:g.67490160G>T	GRCh38
NC_000011.9:g.67257631G>T , CM000673.1:g.67257631G>T	GRCh37
NC_000011.8:g.67014207G>T	NCBI36
NG_008969.1:g.12127G>T , LRG_460:g.12127G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.568G>T
ENST00000528641.7:c.402G>T	ENSP00000434982.3:p.Glu134Asp
ENST00000529797.2:n.1103G>T
ENST00000682324.1:c.468+705G>T	ENSP00000508017.1:n.468+705G>T
ENST00000682659.1:c.222G>T	ENSP00000507351.1:p.Glu74Asp
ENST00000682699.1:c.591G>T	ENSP00000507935.1:p.Glu197Asp
ENST00000683237.1:c.591G>T	ENSP00000507343.1:p.Glu197Asp
ENST00000683856.1:c.414G>T	ENSP00000507979.1:p.Glu138Asp
ENST00000684006.1:c.591G>T	ENSP00000507269.1:p.Glu197Asp
ENST00000684657.1:c.411G>T	ENSP00000507961.1:p.Glu137Asp
ENST00000279146.8:c.591G>T MANE Select	ENSP00000279146.3:p.Glu197Asp
ENST00000279146.7:c.591G>T	ENSP00000279146.3:p.Glu197Asp
ENST00000525341.1:c.243G>T	ENSP00000476993.1:p.Glu81Asp
ENST00000528641.6:c.402G>T	ENSP00000434982.2:p.Glu134Asp
NM_001302959.1:c.414G>T	NP_001289888.1:p.Glu138Asp
NM_001302960.1:c.591G>T	NP_001289889.1:p.Glu197Asp
NM_003977.3:c.591G>T	NP_003968.3:p.Glu197Asp
XM_024448761.1:c.591G>T	XP_024304529.1:p.Glu197Asp
NM_003977.4:c.591G>T MANE Select	NP_003968.3:p.Glu197Asp
NM_001302960.2:c.591G>T	NP_001289889.1:p.Glu197Asp
NM_001302959.2:c.414G>T	NP_001289888.1:p.Glu138Asp