Canonical Allele Identifier: CA224161053

Gene: AIP

Linked Data

• ClinVar Variation Id: 1764001
• ClinVar RCV Id: RCV002447980
• dbSNP Id: rs969013352
• gnomAD v2: 11-67250714-C-G
• gnomAD v4: 11-67483243-C-G
• MyVariant Identifiers: chr11:g.67250714C>G (hg19) ; chr11:g.67483243C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67483243C>G , CM000673.2:g.67483243C>G	GRCh38
NC_000011.9:g.67250714C>G , CM000673.1:g.67250714C>G	GRCh37
NC_000011.8:g.67007290C>G	NCBI36
NG_008969.1:g.5210C>G , LRG_460:g.5210C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.62C>G
ENST00000528641.7:c.85C>G	ENSP00000434982.3:p.Gln29Glu
ENST00000529797.2:n.15C>G
ENST00000682324.1:c.85C>G	ENSP00000508017.1:p.Gln29Glu
ENST00000682659.1:c.85C>G	ENSP00000507351.1:p.Gln29Glu
ENST00000682699.1:c.85C>G	ENSP00000507935.1:p.Gln29Glu
ENST00000683237.1:c.85C>G	ENSP00000507343.1:p.Gln29Glu
ENST00000684006.1:c.85C>G	ENSP00000507269.1:p.Gln29Glu
ENST00000684657.1:c.85C>G	ENSP00000507961.1:p.Gln29Glu
ENST00000279146.8:c.85C>G MANE Select	ENSP00000279146.3:p.Gln29Glu
ENST00000279146.7:c.85C>G	ENSP00000279146.3:p.Gln29Glu
ENST00000528641.6:c.85C>G	ENSP00000434982.2:p.Gln29Glu
ENST00000529797.1:n.195C>G
NM_001302960.1:c.85C>G	NP_001289889.1:p.Gln29Glu
NM_003977.3:c.85C>G	NP_003968.3:p.Gln29Glu
XM_024448761.1:c.85C>G	XP_024304529.1:p.Gln29Glu
NM_003977.4:c.85C>G MANE Select	NP_003968.3:p.Gln29Glu
NM_001302960.2:c.85C>G	NP_001289889.1:p.Gln29Glu