Canonical Allele Identifier: CA475509671

Gene: AIP

Linked Data

• ClinVar Variation Id: 2586851
• ClinVar RCV Id: RCV003358429
• MyVariant Identifiers: chr11:g.67258392G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490921G>C , CM000673.2:g.67490921G>C	GRCh38
NC_000011.9:g.67258392G>C , CM000673.1:g.67258392G>C	GRCh37
NC_000011.8:g.67014968G>C	NCBI36
NG_008969.1:g.12888G>C , LRG_460:g.12888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1228G>C
ENST00000528641.7:c.732G>C	ENSP00000434982.3:p.Arg244=
ENST00000529797.2:n.1763G>C
ENST00000682324.1:c.469-76G>C	ENSP00000508017.1:n.469-76G>C
ENST00000682659.1:c.552G>C	ENSP00000507351.1:p.Arg184=
ENST00000682699.1:c.921G>C	ENSP00000507935.1:p.Arg307=
ENST00000683237.1:c.*61G>C	ENSP00000507343.1:n.*61G>C
ENST00000683856.1:c.744G>C	ENSP00000507979.1:p.Arg248=
ENST00000684006.1:c.*61G>C	ENSP00000507269.1:n.*61G>C
ENST00000684657.1:c.741G>C	ENSP00000507961.1:p.Arg247=
ENST00000279146.8:c.921G>C MANE Select	ENSP00000279146.3:p.Arg307=
ENST00000279146.7:c.921G>C	ENSP00000279146.3:p.Arg307=
NM_001302959.1:c.744G>C	NP_001289888.1:p.Arg248=
NM_001302960.1:c.*61G>C	NP_001289889.1:n.*61G>C
NM_003977.3:c.921G>C	NP_003968.3:p.Arg307=
XM_024448761.1:c.921G>C	XP_024304529.1:p.Arg307=
NM_003977.4:c.921G>C MANE Select	NP_003968.3:p.Arg307=
NM_001302960.2:c.*61G>C	NP_001289889.1:n.*61G>C
NM_001302959.2:c.744G>C	NP_001289888.1:p.Arg248=