Canonical Allele Identifier: CA381554828

Gene: AIP

Linked Data

• ClinVar Variation Id: 1063288
• ClinVar RCV Id: RCV001373112
• dbSNP Id: rs1240656692
• gnomAD v2: 11-67258321-G-A
• MyVariant Identifiers: chr11:g.67258321G>A (hg19) ; chr11:g.67490850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490850G>A , CM000673.2:g.67490850G>A	GRCh38
NC_000011.9:g.67258321G>A , CM000673.1:g.67258321G>A	GRCh37
NC_000011.8:g.67014897G>A	NCBI36
NG_008969.1:g.12817G>A , LRG_460:g.12817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1157G>A
ENST00000528641.7:c.661G>A	ENSP00000434982.3:p.Ala221Thr
ENST00000529797.2:n.1692G>A
ENST00000682324.1:c.469-147G>A	ENSP00000508017.1:n.469-147G>A
ENST00000682659.1:c.481G>A	ENSP00000507351.1:p.Ala161Thr
ENST00000682699.1:c.850G>A	ENSP00000507935.1:p.Ala284Thr
ENST00000683237.1:c.842G>A	ENSP00000507343.1:p.Gly281Asp
ENST00000683856.1:c.673G>A	ENSP00000507979.1:p.Ala225Thr
ENST00000684006.1:c.839G>A	ENSP00000507269.1:p.Gly280Asp
ENST00000684657.1:c.670G>A	ENSP00000507961.1:p.Ala224Thr
ENST00000279146.8:c.850G>A MANE Select	ENSP00000279146.3:p.Ala284Thr
ENST00000279146.7:c.850G>A	ENSP00000279146.3:p.Ala284Thr
ENST00000528641.6:c.661G>A	ENSP00000434982.2:p.Ala221Thr
NM_001302959.1:c.673G>A	NP_001289888.1:p.Ala225Thr
NM_001302960.1:c.842G>A	NP_001289889.1:p.Gly281Asp
NM_003977.3:c.850G>A	NP_003968.3:p.Ala284Thr
XM_024448761.1:c.850G>A	XP_024304529.1:p.Ala284Thr
NM_003977.4:c.850G>A MANE Select	NP_003968.3:p.Ala284Thr
NM_001302960.2:c.842G>A	NP_001289889.1:p.Gly281Asp
NM_001302959.2:c.673G>A	NP_001289888.1:p.Ala225Thr