Canonical Allele Identifier: CA381555516

Gene: AIP

Linked Data

• gnomAD v4: 11-67490980-T-A
• MyVariant Identifiers: chr11:g.67258451T>A (hg19) ; chr11:g.67490980T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490980T>A , CM000673.2:g.67490980T>A	GRCh38
NC_000011.9:g.67258451T>A , CM000673.1:g.67258451T>A	GRCh37
NC_000011.8:g.67015027T>A	NCBI36
NG_008969.1:g.12947T>A , LRG_460:g.12947T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1287T>A
ENST00000528641.7:c.791T>A	ENSP00000434982.3:p.Ile264Asn
ENST00000529797.2:n.1822T>A
ENST00000682324.1:c.469-17T>A	ENSP00000508017.1:n.469-17T>A
ENST00000682659.1:c.611T>A	ENSP00000507351.1:p.Ile204Asn
ENST00000683237.1:c.*120T>A	ENSP00000507343.1:n.*120T>A
ENST00000683856.1:c.803T>A	ENSP00000507979.1:p.Ile268Asn
ENST00000684006.1:c.*120T>A	ENSP00000507269.1:n.*120T>A
ENST00000684657.1:c.800T>A	ENSP00000507961.1:p.Ile267Asn
ENST00000279146.8:c.980T>A MANE Select	ENSP00000279146.3:p.Ile327Asn
ENST00000279146.7:c.980T>A	ENSP00000279146.3:p.Ile327Asn
NM_001302959.1:c.803T>A	NP_001289888.1:p.Ile268Asn
NM_001302960.1:c.*120T>A	NP_001289889.1:n.*120T>A
NM_003977.3:c.980T>A	NP_003968.3:p.Ile327Asn
XM_024448761.1:c.980T>A	XP_024304529.1:p.Ile327Asn
NM_003977.4:c.980T>A MANE Select	NP_003968.3:p.Ile327Asn
NM_001302960.2:c.*120T>A	NP_001289889.1:n.*120T>A
NM_001302959.2:c.803T>A	NP_001289888.1:p.Ile268Asn