Canonical Allele Identifier: CA6140928

Gene: AIP

Linked Data

• ClinVar Variation Id: 305731
• ClinVar RCV Id: RCV000293623 ; RCV000563180 ; RCV000900249
• dbSNP Id: rs147351993
• ExAC: 11:67257894 G / A
• gnomAD v2: 11-67257894-G-A
• gnomAD v3: 11-67490423-G-A
• gnomAD v4: 11-67490423-G-A
• MyVariant Identifiers: chr11:g.67257894G>A (hg19) ; chr11:g.67490423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490423G>A , CM000673.2:g.67490423G>A	GRCh38
NC_000011.9:g.67257894G>A , CM000673.1:g.67257894G>A	GRCh37
NC_000011.8:g.67014470G>A	NCBI36
NG_008969.1:g.12390G>A , LRG_460:g.12390G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.730G>A
ENST00000528641.7:c.564G>A	ENSP00000434982.3:p.Leu188=
ENST00000529797.2:n.1265G>A
ENST00000682324.1:c.469-574G>A	ENSP00000508017.1:n.469-574G>A
ENST00000682659.1:c.384G>A	ENSP00000507351.1:p.Leu128=
ENST00000682699.1:c.753G>A	ENSP00000507935.1:p.Leu251=
ENST00000683237.1:c.753G>A	ENSP00000507343.1:p.Leu251=
ENST00000683856.1:c.576G>A	ENSP00000507979.1:p.Leu192=
ENST00000684006.1:c.753G>A	ENSP00000507269.1:p.Leu251=
ENST00000684657.1:c.573G>A	ENSP00000507961.1:p.Leu191=
ENST00000279146.8:c.753G>A MANE Select	ENSP00000279146.3:p.Leu251=
ENST00000279146.7:c.753G>A	ENSP00000279146.3:p.Leu251=
ENST00000525341.1:c.405G>A	ENSP00000476993.1:p.Leu135=
ENST00000528641.6:c.564G>A	ENSP00000434982.2:p.Leu188=
NM_001302959.1:c.576G>A	NP_001289888.1:p.Leu192=
NM_001302960.1:c.753G>A	NP_001289889.1:p.Leu251=
NM_003977.3:c.753G>A	NP_003968.3:p.Leu251=
XM_024448761.1:c.753G>A	XP_024304529.1:p.Leu251=
NM_003977.4:c.753G>A MANE Select	NP_003968.3:p.Leu251=
NM_001302960.2:c.753G>A	NP_001289889.1:p.Leu251=
NM_001302959.2:c.576G>A	NP_001289888.1:p.Leu192=