Canonical Allele Identifier: CA6140869

Gene: AIP

Linked Data

• ClinVar Variation Id: 854882
• ClinVar RCV Id: RCV001060020 ; RCV002348437
• dbSNP Id: rs577617733
• ExAC: 11:67257602 C / T
• gnomAD v2: 11-67257602-C-T
• gnomAD v3: 11-67490131-C-T
• gnomAD v4: 11-67490131-C-T
• MyVariant Identifiers: chr11:g.67257602C>T (hg19) ; chr11:g.67490131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490131C>T , CM000673.2:g.67490131C>T	GRCh38
NC_000011.9:g.67257602C>T , CM000673.1:g.67257602C>T	GRCh37
NC_000011.8:g.67014178C>T	NCBI36
NG_008969.1:g.12098C>T , LRG_460:g.12098C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.539C>T
ENST00000528641.7:c.373C>T	ENSP00000434982.3:p.Arg125Trp
ENST00000529797.2:n.1074C>T
ENST00000682324.1:c.468+676C>T	ENSP00000508017.1:n.468+676C>T
ENST00000682659.1:c.193C>T	ENSP00000507351.1:p.Arg65Trp
ENST00000682699.1:c.562C>T	ENSP00000507935.1:p.Arg188Trp
ENST00000683237.1:c.562C>T	ENSP00000507343.1:p.Arg188Trp
ENST00000683856.1:c.385C>T	ENSP00000507979.1:p.Arg129Trp
ENST00000684006.1:c.562C>T	ENSP00000507269.1:p.Arg188Trp
ENST00000684657.1:c.382C>T	ENSP00000507961.1:p.Arg128Trp
ENST00000279146.8:c.562C>T MANE Select	ENSP00000279146.3:p.Arg188Trp
ENST00000279146.7:c.562C>T	ENSP00000279146.3:p.Arg188Trp
ENST00000525341.1:c.214C>T	ENSP00000476993.1:p.Arg72Trp
ENST00000528641.6:c.373C>T	ENSP00000434982.2:p.Arg125Trp
NM_001302959.1:c.385C>T	NP_001289888.1:p.Arg129Trp
NM_001302960.1:c.562C>T	NP_001289889.1:p.Arg188Trp
NM_003977.3:c.562C>T	NP_003968.3:p.Arg188Trp
XM_024448761.1:c.562C>T	XP_024304529.1:p.Arg188Trp
NM_003977.4:c.562C>T MANE Select	NP_003968.3:p.Arg188Trp
NM_001302960.2:c.562C>T	NP_001289889.1:p.Arg188Trp
NM_001302959.2:c.385C>T	NP_001289888.1:p.Arg129Trp