Canonical Allele Identifier: CA475509760

Gene: AIP

Linked Data

• ClinVar Variation Id: 3223635
• ClinVar RCV Id: RCV004516399
• MyVariant Identifiers: chr11:g.67258458C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490987C>G , CM000673.2:g.67490987C>G	GRCh38
NC_000011.9:g.67258458C>G , CM000673.1:g.67258458C>G	GRCh37
NC_000011.8:g.67015034C>G	NCBI36
NG_008969.1:g.12954C>G , LRG_460:g.12954C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1294C>G
ENST00000528641.7:c.798C>G	ENSP00000434982.3:p.Ser266=
ENST00000529797.2:n.1829C>G
ENST00000682324.1:c.469-10C>G	ENSP00000508017.1:n.469-10C>G
ENST00000682659.1:c.618C>G	ENSP00000507351.1:p.Ser206=
ENST00000683237.1:c.*127C>G	ENSP00000507343.1:n.*127C>G
ENST00000683856.1:c.810C>G	ENSP00000507979.1:p.Ser270=
ENST00000684006.1:c.*127C>G	ENSP00000507269.1:n.*127C>G
ENST00000684657.1:c.807C>G	ENSP00000507961.1:p.Ser269=
ENST00000279146.8:c.987C>G MANE Select	ENSP00000279146.3:p.Ser329=
ENST00000279146.7:c.987C>G	ENSP00000279146.3:p.Ser329=
NM_001302959.1:c.810C>G	NP_001289888.1:p.Ser270=
NM_001302960.1:c.*127C>G	NP_001289889.1:n.*127C>G
NM_003977.3:c.987C>G	NP_003968.3:p.Ser329=
XM_024448761.1:c.987C>G	XP_024304529.1:p.Ser329=
NM_003977.4:c.987C>G MANE Select	NP_003968.3:p.Ser329=
NM_001302960.2:c.*127C>G	NP_001289889.1:n.*127C>G
NM_001302959.2:c.810C>G	NP_001289888.1:p.Ser270=