Canonical Allele Identifier: CA6140992

Gene: AIP

Linked Data

• ClinVar Variation Id: 1394137
• ClinVar RCV Id: RCV001898451 ; RCV002449544
• dbSNP Id: rs775673977
• ExAC: 11:67258328 C / T
• gnomAD v4: 11-67490857-C-T
• MyVariant Identifiers: chr11:g.67258328C>T (hg19) ; chr11:g.67490857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490857C>T , CM000673.2:g.67490857C>T	GRCh38
NC_000011.9:g.67258328C>T , CM000673.1:g.67258328C>T	GRCh37
NC_000011.8:g.67014904C>T	NCBI36
NG_008969.1:g.12824C>T , LRG_460:g.12824C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1164C>T
ENST00000528641.7:c.668C>T	ENSP00000434982.3:p.Ala223Val
ENST00000529797.2:n.1699C>T
ENST00000682324.1:c.469-140C>T	ENSP00000508017.1:n.469-140C>T
ENST00000682659.1:c.488C>T	ENSP00000507351.1:p.Ala163Val
ENST00000682699.1:c.857C>T	ENSP00000507935.1:p.Ala286Val
ENST00000683237.1:c.849C>T	ENSP00000507343.1:p.Gly283=
ENST00000683856.1:c.680C>T	ENSP00000507979.1:p.Ala227Val
ENST00000684006.1:c.846C>T	ENSP00000507269.1:p.Gly282=
ENST00000684657.1:c.677C>T	ENSP00000507961.1:p.Ala226Val
ENST00000279146.8:c.857C>T MANE Select	ENSP00000279146.3:p.Ala286Val
ENST00000279146.7:c.857C>T	ENSP00000279146.3:p.Ala286Val
ENST00000528641.6:c.668C>T	ENSP00000434982.2:p.Ala223Val
NM_001302959.1:c.680C>T	NP_001289888.1:p.Ala227Val
NM_001302960.1:c.849C>T	NP_001289889.1:p.Gly283=
NM_003977.3:c.857C>T	NP_003968.3:p.Ala286Val
XM_024448761.1:c.857C>T	XP_024304529.1:p.Ala286Val
NM_003977.4:c.857C>T MANE Select	NP_003968.3:p.Ala286Val
NM_001302960.2:c.849C>T	NP_001289889.1:p.Gly283=
NM_001302959.2:c.680C>T	NP_001289888.1:p.Ala227Val