Canonical Allele Identifier: CA381555156

Gene: AIP

Linked Data

• ClinVar Variation Id: 2675343
• ClinVar RCV Id: RCV003468074
• MyVariant Identifiers: chr11:g.67258358C>A (hg19) ; chr11:g.67490887C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490887C>A , CM000673.2:g.67490887C>A	GRCh38
NC_000011.9:g.67258358C>A , CM000673.1:g.67258358C>A	GRCh37
NC_000011.8:g.67014934C>A	NCBI36
NG_008969.1:g.12854C>A , LRG_460:g.12854C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1194C>A
ENST00000528641.7:c.698C>A	ENSP00000434982.3:p.Pro233Gln
ENST00000529797.2:n.1729C>A
ENST00000682324.1:c.469-110C>A	ENSP00000508017.1:n.469-110C>A
ENST00000682659.1:c.518C>A	ENSP00000507351.1:p.Pro173Gln
ENST00000682699.1:c.887C>A	ENSP00000507935.1:p.Pro296Gln
ENST00000683237.1:c.*27C>A	ENSP00000507343.1:n.*27C>A
ENST00000683856.1:c.710C>A	ENSP00000507979.1:p.Pro237Gln
ENST00000684006.1:c.*27C>A	ENSP00000507269.1:n.*27C>A
ENST00000684657.1:c.707C>A	ENSP00000507961.1:p.Pro236Gln
ENST00000279146.8:c.887C>A MANE Select	ENSP00000279146.3:p.Pro296Gln
ENST00000279146.7:c.887C>A	ENSP00000279146.3:p.Pro296Gln
NM_001302959.1:c.710C>A	NP_001289888.1:p.Pro237Gln
NM_001302960.1:c.*27C>A	NP_001289889.1:n.*27C>A
NM_003977.3:c.887C>A	NP_003968.3:p.Pro296Gln
XM_024448761.1:c.887C>A	XP_024304529.1:p.Pro296Gln
NM_003977.4:c.887C>A MANE Select	NP_003968.3:p.Pro296Gln
NM_001302960.2:c.*27C>A	NP_001289889.1:n.*27C>A
NM_001302959.2:c.710C>A	NP_001289888.1:p.Pro237Gln