Canonical Allele Identifier: CA381555116

Gene: AIP

Linked Data

• gnomAD v4: 11-67490883-G-A
• MyVariant Identifiers: chr11:g.67258354G>A (hg19) ; chr11:g.67490883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490883G>A , CM000673.2:g.67490883G>A	GRCh38
NC_000011.9:g.67258354G>A , CM000673.1:g.67258354G>A	GRCh37
NC_000011.8:g.67014930G>A	NCBI36
NG_008969.1:g.12850G>A , LRG_460:g.12850G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1190G>A
ENST00000528641.7:c.694G>A	ENSP00000434982.3:p.Asp232Asn
ENST00000529797.2:n.1725G>A
ENST00000682324.1:c.469-114G>A	ENSP00000508017.1:n.469-114G>A
ENST00000682659.1:c.514G>A	ENSP00000507351.1:p.Asp172Asn
ENST00000682699.1:c.883G>A	ENSP00000507935.1:p.Asp295Asn
ENST00000683237.1:c.*23G>A	ENSP00000507343.1:n.*23G>A
ENST00000683856.1:c.706G>A	ENSP00000507979.1:p.Asp236Asn
ENST00000684006.1:c.*23G>A	ENSP00000507269.1:n.*23G>A
ENST00000684657.1:c.703G>A	ENSP00000507961.1:p.Asp235Asn
ENST00000279146.8:c.883G>A MANE Select	ENSP00000279146.3:p.Asp295Asn
ENST00000279146.7:c.883G>A	ENSP00000279146.3:p.Asp295Asn
ENST00000528641.6:c.694G>A	ENSP00000434982.2:p.Asp232Asn
NM_001302959.1:c.706G>A	NP_001289888.1:p.Asp236Asn
NM_001302960.1:c.*23G>A	NP_001289889.1:n.*23G>A
NM_003977.3:c.883G>A	NP_003968.3:p.Asp295Asn
XM_024448761.1:c.883G>A	XP_024304529.1:p.Asp295Asn
NM_003977.4:c.883G>A MANE Select	NP_003968.3:p.Asp295Asn
NM_001302960.2:c.*23G>A	NP_001289889.1:n.*23G>A
NM_001302959.2:c.706G>A	NP_001289888.1:p.Asp236Asn