Canonical Allele Identifier: CA475392249

Gene: AIP

Linked Data

• ClinVar Variation Id: 1543340
• ClinVar RCV Id: RCV002170041 ; RCV003161361
• dbSNP Id: rs2134251020
• gnomAD v4: 11-67487029-G-A
• MyVariant Identifiers: chr11:g.67254500G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487029G>A , CM000673.2:g.67487029G>A	GRCh38
NC_000011.9:g.67254500G>A , CM000673.1:g.67254500G>A	GRCh37
NC_000011.8:g.67011076G>A	NCBI36
NG_008969.1:g.8996G>A , LRG_460:g.8996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.100G>A
ENST00000528641.7:c.123G>A	ENSP00000434982.3:p.Leu41=
ENST00000529797.2:n.53G>A
ENST00000682324.1:c.123G>A	ENSP00000508017.1:p.Leu41=
ENST00000682659.1:c.100-3009G>A	ENSP00000507351.1:n.100-3009G>A
ENST00000682699.1:c.123G>A	ENSP00000507935.1:p.Leu41=
ENST00000683237.1:c.123G>A	ENSP00000507343.1:p.Leu41=
ENST00000683856.1:c.-55G>A	ENSP00000507979.1:n.-55G>A
ENST00000684006.1:c.123G>A	ENSP00000507269.1:p.Leu41=
ENST00000684657.1:c.100-2238G>A	ENSP00000507961.1:n.100-2238G>A
ENST00000279146.8:c.123G>A MANE Select	ENSP00000279146.3:p.Leu41=
ENST00000279146.7:c.123G>A	ENSP00000279146.3:p.Leu41=
ENST00000528641.6:c.123G>A	ENSP00000434982.2:p.Leu41=
ENST00000529797.1:n.233G>A
NM_001302959.1:c.-55G>A	NP_001289888.1:n.-55G>A
NM_001302960.1:c.123G>A	NP_001289889.1:p.Leu41=
NM_003977.3:c.123G>A	NP_003968.3:p.Leu41=
XM_024448761.1:c.123G>A	XP_024304529.1:p.Leu41=
NM_003977.4:c.123G>A MANE Select	NP_003968.3:p.Leu41=
NM_001302960.2:c.123G>A	NP_001289889.1:p.Leu41=
NM_001302959.2:c.-55G>A	NP_001289888.1:n.-55G>A