Canonical Allele Identifier: CA381550226

Gene: AIP

Linked Data

• ClinVar Variation Id: 3223615
• ClinVar RCV Id: RCV004516379
• MyVariant Identifiers: chr11:g.67257509G>C (hg19) ; chr11:g.67490038G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490038G>C , CM000673.2:g.67490038G>C	GRCh38
NC_000011.9:g.67257509G>C , CM000673.1:g.67257509G>C	GRCh37
NC_000011.8:g.67014085G>C	NCBI36
NG_008969.1:g.12005G>C , LRG_460:g.12005G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.446G>C
ENST00000528641.7:c.280G>C	ENSP00000434982.3:p.Val94Leu
ENST00000529797.2:n.981G>C
ENST00000682324.1:c.468+583G>C	ENSP00000508017.1:n.468+583G>C
ENST00000682659.1:c.100G>C	ENSP00000507351.1:p.Val34Leu
ENST00000682699.1:c.469G>C	ENSP00000507935.1:p.Val157Leu
ENST00000683237.1:c.469G>C	ENSP00000507343.1:p.Val157Leu
ENST00000683856.1:c.292G>C	ENSP00000507979.1:p.Val98Leu
ENST00000684006.1:c.469G>C	ENSP00000507269.1:p.Val157Leu
ENST00000684657.1:c.289G>C	ENSP00000507961.1:p.Val97Leu
ENST00000279146.8:c.469G>C MANE Select	ENSP00000279146.3:p.Val157Leu
ENST00000279146.7:c.469G>C	ENSP00000279146.3:p.Val157Leu
ENST00000525341.1:c.121G>C	ENSP00000476993.1:p.Val41Leu
ENST00000528641.6:c.280G>C	ENSP00000434982.2:p.Val94Leu
NM_001302959.1:c.292G>C	NP_001289888.1:p.Val98Leu
NM_001302960.1:c.469G>C	NP_001289889.1:p.Val157Leu
NM_003977.3:c.469G>C	NP_003968.3:p.Val157Leu
XM_024448761.1:c.469G>C	XP_024304529.1:p.Val157Leu
NM_003977.4:c.469G>C MANE Select	NP_003968.3:p.Val157Leu
NM_001302960.2:c.469G>C	NP_001289889.1:p.Val157Leu
NM_001302959.2:c.292G>C	NP_001289888.1:p.Val98Leu