Canonical Allele Identifier: CA6140868

Gene: AIP

Linked Data

• ClinVar Variation Id: 485051
• ClinVar RCV Id: RCV000565129 ; RCV001499010
• dbSNP Id: rs142037029
• ExAC: 11:67257601 C / T
• gnomAD v2: 11-67257601-C-T
• gnomAD v3: 11-67490130-C-T
• gnomAD v4: 11-67490130-C-T
• MyVariant Identifiers: chr11:g.67257601C>T (hg19) ; chr11:g.67490130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490130C>T , CM000673.2:g.67490130C>T	GRCh38
NC_000011.9:g.67257601C>T , CM000673.1:g.67257601C>T	GRCh37
NC_000011.8:g.67014177C>T	NCBI36
NG_008969.1:g.12097C>T , LRG_460:g.12097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.538C>T
ENST00000528641.7:c.372C>T	ENSP00000434982.3:p.Asn124=
ENST00000529797.2:n.1073C>T
ENST00000682324.1:c.468+675C>T	ENSP00000508017.1:n.468+675C>T
ENST00000682659.1:c.192C>T	ENSP00000507351.1:p.Asn64=
ENST00000682699.1:c.561C>T	ENSP00000507935.1:p.Asn187=
ENST00000683237.1:c.561C>T	ENSP00000507343.1:p.Asn187=
ENST00000683856.1:c.384C>T	ENSP00000507979.1:p.Asn128=
ENST00000684006.1:c.561C>T	ENSP00000507269.1:p.Asn187=
ENST00000684657.1:c.381C>T	ENSP00000507961.1:p.Asn127=
ENST00000279146.8:c.561C>T MANE Select	ENSP00000279146.3:p.Asn187=
ENST00000279146.7:c.561C>T	ENSP00000279146.3:p.Asn187=
ENST00000525341.1:c.213C>T	ENSP00000476993.1:p.Asn71=
ENST00000528641.6:c.372C>T	ENSP00000434982.2:p.Asn124=
NM_001302959.1:c.384C>T	NP_001289888.1:p.Asn128=
NM_001302960.1:c.561C>T	NP_001289889.1:p.Asn187=
NM_003977.3:c.561C>T	NP_003968.3:p.Asn187=
XM_024448761.1:c.561C>T	XP_024304529.1:p.Asn187=
NM_003977.4:c.561C>T MANE Select	NP_003968.3:p.Asn187=
NM_001302960.2:c.561C>T	NP_001289889.1:p.Asn187=
NM_001302959.2:c.384C>T	NP_001289888.1:p.Asn128=