Canonical Allele Identifier: CA475509695

Gene: AIP

Linked Data

• ClinVar Variation Id: 1151541
• ClinVar RCV Id: RCV001492498 ; RCV002377845
• dbSNP Id: rs1865897525
• gnomAD v4: 11-67490933-A-G
• MyVariant Identifiers: chr11:g.67258404A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490933A>G , CM000673.2:g.67490933A>G	GRCh38
NC_000011.9:g.67258404A>G , CM000673.1:g.67258404A>G	GRCh37
NC_000011.8:g.67014980A>G	NCBI36
NG_008969.1:g.12900A>G , LRG_460:g.12900A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1240A>G
ENST00000528641.7:c.744A>G	ENSP00000434982.3:p.Ala248=
ENST00000529797.2:n.1775A>G
ENST00000682324.1:c.469-64A>G	ENSP00000508017.1:n.469-64A>G
ENST00000682659.1:c.564A>G	ENSP00000507351.1:p.Ala188=
ENST00000682699.1:c.933A>G	ENSP00000507935.1:p.Ala311=
ENST00000683237.1:c.*73A>G	ENSP00000507343.1:n.*73A>G
ENST00000683856.1:c.756A>G	ENSP00000507979.1:p.Ala252=
ENST00000684006.1:c.*73A>G	ENSP00000507269.1:n.*73A>G
ENST00000684657.1:c.753A>G	ENSP00000507961.1:p.Ala251=
ENST00000279146.8:c.933A>G MANE Select	ENSP00000279146.3:p.Ala311=
ENST00000279146.7:c.933A>G	ENSP00000279146.3:p.Ala311=
NM_001302959.1:c.756A>G	NP_001289888.1:p.Ala252=
NM_001302960.1:c.*73A>G	NP_001289889.1:n.*73A>G
NM_003977.3:c.933A>G	NP_003968.3:p.Ala311=
XM_024448761.1:c.933A>G	XP_024304529.1:p.Ala311=
NM_003977.4:c.933A>G MANE Select	NP_003968.3:p.Ala311=
NM_001302960.2:c.*73A>G	NP_001289889.1:n.*73A>G
NM_001302959.2:c.756A>G	NP_001289888.1:p.Ala252=