Canonical Allele Identifier: CA344071

Gene: AIP

Linked Data

• ClinVar Variation Id: 41166
• ClinVar RCV Id: RCV000034065 ; RCV001012978 ; RCV001038333
• dbSNP Id: rs267606539
• ExAC: 11:67254551 G / C
• gnomAD v2: 11-67254551-G-C
• gnomAD v3: 11-67487080-G-C
• gnomAD v4: 11-67487080-G-C
• MyVariant Identifiers: chr11:g.67254551G>C (hg19) ; chr11:g.67487080G>C (hg38)
• PubMed: PMID:21753072 ; PMID:22319033 ; PMID:22720333 ; PMID:23321498 ; PMID:23371967

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487080G>C , CM000673.2:g.67487080G>C	GRCh38
NC_000011.9:g.67254551G>C , CM000673.1:g.67254551G>C	GRCh37
NC_000011.8:g.67011127G>C	NCBI36
NG_008969.1:g.9047G>C , LRG_460:g.9047G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.151G>C
ENST00000528641.7:c.174G>C	ENSP00000434982.3:p.Lys58Asn
ENST00000529797.2:n.104G>C
ENST00000682324.1:c.174G>C	ENSP00000508017.1:p.Lys58Asn
ENST00000682659.1:c.100-2958G>C	ENSP00000507351.1:n.100-2958G>C
ENST00000682699.1:c.174G>C	ENSP00000507935.1:p.Lys58Asn
ENST00000683237.1:c.174G>C	ENSP00000507343.1:p.Lys58Asn
ENST00000683856.1:c.-4G>C	ENSP00000507979.1:n.-4G>C
ENST00000684006.1:c.174G>C	ENSP00000507269.1:p.Lys58Asn
ENST00000684657.1:c.100-2187G>C	ENSP00000507961.1:n.100-2187G>C
ENST00000279146.8:c.174G>C MANE Select	ENSP00000279146.3:p.Lys58Asn
ENST00000279146.7:c.174G>C	ENSP00000279146.3:p.Lys58Asn
ENST00000528641.6:c.174G>C	ENSP00000434982.2:p.Lys58Asn
ENST00000529797.1:n.284G>C
NM_001302959.1:c.-4G>C	NP_001289888.1:n.-4G>C
NM_001302960.1:c.174G>C	NP_001289889.1:p.Lys58Asn
NM_003977.3:c.174G>C	NP_003968.3:p.Lys58Asn
XM_024448761.1:c.174G>C	XP_024304529.1:p.Lys58Asn
NM_003977.4:c.174G>C MANE Select	NP_003968.3:p.Lys58Asn
NM_001302960.2:c.174G>C	NP_001289889.1:p.Lys58Asn
NM_001302959.2:c.-4G>C	NP_001289888.1:n.-4G>C