Canonical Allele Identifier: CA381551102

Gene: AIP

Linked Data

• ClinVar Variation Id: 1751105
• ClinVar RCV Id: RCV002358092
• MyVariant Identifiers: chr11:g.67257641A>C (hg19) ; chr11:g.67490170A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490170A>C , CM000673.2:g.67490170A>C	GRCh38
NC_000011.9:g.67257641A>C , CM000673.1:g.67257641A>C	GRCh37
NC_000011.8:g.67014217A>C	NCBI36
NG_008969.1:g.12137A>C , LRG_460:g.12137A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.578A>C
ENST00000528641.7:c.412A>C	ENSP00000434982.3:p.Lys138Gln
ENST00000529797.2:n.1113A>C
ENST00000682324.1:c.468+715A>C	ENSP00000508017.1:n.468+715A>C
ENST00000682659.1:c.232A>C	ENSP00000507351.1:p.Lys78Gln
ENST00000682699.1:c.601A>C	ENSP00000507935.1:p.Lys201Gln
ENST00000683237.1:c.601A>C	ENSP00000507343.1:p.Lys201Gln
ENST00000683856.1:c.424A>C	ENSP00000507979.1:p.Lys142Gln
ENST00000684006.1:c.601A>C	ENSP00000507269.1:p.Lys201Gln
ENST00000684657.1:c.421A>C	ENSP00000507961.1:p.Lys141Gln
ENST00000279146.8:c.601A>C MANE Select	ENSP00000279146.3:p.Lys201Gln
ENST00000279146.7:c.601A>C	ENSP00000279146.3:p.Lys201Gln
ENST00000525341.1:c.253A>C	ENSP00000476993.1:p.Lys85Gln
ENST00000528641.6:c.412A>C	ENSP00000434982.2:p.Lys138Gln
NM_001302959.1:c.424A>C	NP_001289888.1:p.Lys142Gln
NM_001302960.1:c.601A>C	NP_001289889.1:p.Lys201Gln
NM_003977.3:c.601A>C	NP_003968.3:p.Lys201Gln
XM_024448761.1:c.601A>C	XP_024304529.1:p.Lys201Gln
NM_003977.4:c.601A>C MANE Select	NP_003968.3:p.Lys201Gln
NM_001302960.2:c.601A>C	NP_001289889.1:p.Lys201Gln
NM_001302959.2:c.424A>C	NP_001289888.1:p.Lys142Gln