Canonical Allele Identifier: CA475509306

Gene: AIP

Linked Data

• ClinVar Variation Id: 2129647
• ClinVar RCV Id: RCV003050098
• MyVariant Identifiers: chr11:g.67257912C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490441C>A , CM000673.2:g.67490441C>A	GRCh38
NC_000011.9:g.67257912C>A , CM000673.1:g.67257912C>A	GRCh37
NC_000011.8:g.67014488C>A	NCBI36
NG_008969.1:g.12408C>A , LRG_460:g.12408C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.748C>A
ENST00000528641.7:c.582C>A	ENSP00000434982.3:p.Ile194=
ENST00000529797.2:n.1283C>A
ENST00000682324.1:c.469-556C>A	ENSP00000508017.1:n.469-556C>A
ENST00000682659.1:c.402C>A	ENSP00000507351.1:p.Ile134=
ENST00000682699.1:c.771C>A	ENSP00000507935.1:p.Ile257=
ENST00000683237.1:c.771C>A	ENSP00000507343.1:p.Ile257=
ENST00000683856.1:c.594C>A	ENSP00000507979.1:p.Ile198=
ENST00000684006.1:c.771C>A	ENSP00000507269.1:p.Ile257=
ENST00000684657.1:c.591C>A	ENSP00000507961.1:p.Ile197=
ENST00000279146.8:c.771C>A MANE Select	ENSP00000279146.3:p.Ile257=
ENST00000279146.7:c.771C>A	ENSP00000279146.3:p.Ile257=
ENST00000525341.1:c.423C>A	ENSP00000476993.1:p.Ile141=
ENST00000528641.6:c.582C>A	ENSP00000434982.2:p.Ile194=
NM_001302959.1:c.594C>A	NP_001289888.1:p.Ile198=
NM_001302960.1:c.771C>A	NP_001289889.1:p.Ile257=
NM_003977.3:c.771C>A	NP_003968.3:p.Ile257=
XM_024448761.1:c.771C>A	XP_024304529.1:p.Ile257=
NM_003977.4:c.771C>A MANE Select	NP_003968.3:p.Ile257=
NM_001302960.2:c.771C>A	NP_001289889.1:p.Ile257=
NM_001302959.2:c.594C>A	NP_001289888.1:p.Ile198=