Canonical Allele Identifier: CA381550811

Gene: AIP

Linked Data

• ClinVar Variation Id: 2586853
• ClinVar RCV Id: RCV003358430
• dbSNP Id: rs1463526467
• gnomAD v3: 11-67490126-G-A
• gnomAD v4: 11-67490126-G-A
• MyVariant Identifiers: chr11:g.67257597G>A (hg19) ; chr11:g.67490126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490126G>A , CM000673.2:g.67490126G>A	GRCh38
NC_000011.9:g.67257597G>A , CM000673.1:g.67257597G>A	GRCh37
NC_000011.8:g.67014173G>A	NCBI36
NG_008969.1:g.12093G>A , LRG_460:g.12093G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.534G>A
ENST00000528641.7:c.368G>A	ENSP00000434982.3:p.Gly123Asp
ENST00000529797.2:n.1069G>A
ENST00000682324.1:c.468+671G>A	ENSP00000508017.1:n.468+671G>A
ENST00000682659.1:c.188G>A	ENSP00000507351.1:p.Gly63Asp
ENST00000682699.1:c.557G>A	ENSP00000507935.1:p.Gly186Asp
ENST00000683237.1:c.557G>A	ENSP00000507343.1:p.Gly186Asp
ENST00000683856.1:c.380G>A	ENSP00000507979.1:p.Gly127Asp
ENST00000684006.1:c.557G>A	ENSP00000507269.1:p.Gly186Asp
ENST00000684657.1:c.377G>A	ENSP00000507961.1:p.Gly126Asp
ENST00000279146.8:c.557G>A MANE Select	ENSP00000279146.3:p.Gly186Asp
ENST00000279146.7:c.557G>A	ENSP00000279146.3:p.Gly186Asp
ENST00000525341.1:c.209G>A	ENSP00000476993.1:p.Gly70Asp
ENST00000528641.6:c.368G>A	ENSP00000434982.2:p.Gly123Asp
NM_001302959.1:c.380G>A	NP_001289888.1:p.Gly127Asp
NM_001302960.1:c.557G>A	NP_001289889.1:p.Gly186Asp
NM_003977.3:c.557G>A	NP_003968.3:p.Gly186Asp
XM_024448761.1:c.557G>A	XP_024304529.1:p.Gly186Asp
NM_003977.4:c.557G>A MANE Select	NP_003968.3:p.Gly186Asp
NM_001302960.2:c.557G>A	NP_001289889.1:p.Gly186Asp
NM_001302959.2:c.380G>A	NP_001289888.1:p.Gly127Asp