Canonical Allele Identifier: CA6140873

Gene: AIP

Linked Data

• ClinVar Variation Id: 825931
• ClinVar RCV Id: RCV001024465 ; RCV001104758 ; RCV001210249 ; RCV003962996
• dbSNP Id: rs781545373
• ExAC: 11:67257613 C / T
• gnomAD v2: 11-67257613-C-T
• gnomAD v3: 11-67490142-C-T
• gnomAD v4: 11-67490142-C-T
• COSMIC: COSM1165535
• MyVariant Identifiers: chr11:g.67257613C>T (hg19) ; chr11:g.67490142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490142C>T , CM000673.2:g.67490142C>T	GRCh38
NC_000011.9:g.67257613C>T , CM000673.1:g.67257613C>T	GRCh37
NC_000011.8:g.67014189C>T	NCBI36
NG_008969.1:g.12109C>T , LRG_460:g.12109C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.550C>T
ENST00000528641.7:c.384C>T	ENSP00000434982.3:p.Arg128=
ENST00000529797.2:n.1085C>T
ENST00000682324.1:c.468+687C>T	ENSP00000508017.1:n.468+687C>T
ENST00000682659.1:c.204C>T	ENSP00000507351.1:p.Arg68=
ENST00000682699.1:c.573C>T	ENSP00000507935.1:p.Arg191=
ENST00000683237.1:c.573C>T	ENSP00000507343.1:p.Arg191=
ENST00000683856.1:c.396C>T	ENSP00000507979.1:p.Arg132=
ENST00000684006.1:c.573C>T	ENSP00000507269.1:p.Arg191=
ENST00000684657.1:c.393C>T	ENSP00000507961.1:p.Arg131=
ENST00000279146.8:c.573C>T MANE Select	ENSP00000279146.3:p.Arg191=
ENST00000279146.7:c.573C>T	ENSP00000279146.3:p.Arg191=
ENST00000525341.1:c.225C>T	ENSP00000476993.1:p.Arg75=
ENST00000528641.6:c.384C>T	ENSP00000434982.2:p.Arg128=
NM_001302959.1:c.396C>T	NP_001289888.1:p.Arg132=
NM_001302960.1:c.573C>T	NP_001289889.1:p.Arg191=
NM_003977.3:c.573C>T	NP_003968.3:p.Arg191=
XM_024448761.1:c.573C>T	XP_024304529.1:p.Arg191=
NM_003977.4:c.573C>T MANE Select	NP_003968.3:p.Arg191=
NM_001302960.2:c.573C>T	NP_001289889.1:p.Arg191=
NM_001302959.2:c.396C>T	NP_001289888.1:p.Arg132=