Canonical Allele Identifier: CA6140754

Gene: AIP

Linked Data

• ClinVar Variation Id: 821051
• ClinVar RCV Id: RCV001015103 ; RCV001323868
• dbSNP Id: rs199531255
• ExAC: 11:67254606 G / A
• gnomAD v2: 11-67254606-G-A
• gnomAD v3: 11-67487135-G-A
• gnomAD v4: 11-67487135-G-A
• MyVariant Identifiers: chr11:g.67254606G>A (hg19) ; chr11:g.67487135G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487135G>A , CM000673.2:g.67487135G>A	GRCh38
NC_000011.9:g.67254606G>A , CM000673.1:g.67254606G>A	GRCh37
NC_000011.8:g.67011182G>A	NCBI36
NG_008969.1:g.9102G>A , LRG_460:g.9102G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.206G>A
ENST00000528641.7:c.229G>A	ENSP00000434982.3:p.Val77Met
ENST00000529797.2:n.159G>A
ENST00000682324.1:c.229G>A	ENSP00000508017.1:p.Val77Met
ENST00000682659.1:c.100-2903G>A	ENSP00000507351.1:n.100-2903G>A
ENST00000682699.1:c.229G>A	ENSP00000507935.1:p.Val77Met
ENST00000683237.1:c.229G>A	ENSP00000507343.1:p.Val77Met
ENST00000683856.1:c.52G>A	ENSP00000507979.1:p.Val18Met
ENST00000684006.1:c.229G>A	ENSP00000507269.1:p.Val77Met
ENST00000684657.1:c.100-2132G>A	ENSP00000507961.1:n.100-2132G>A
ENST00000279146.8:c.229G>A MANE Select	ENSP00000279146.3:p.Val77Met
ENST00000279146.7:c.229G>A	ENSP00000279146.3:p.Val77Met
ENST00000528641.6:c.229G>A	ENSP00000434982.2:p.Val77Met
ENST00000529797.1:n.339G>A
NM_001302959.1:c.52G>A	NP_001289888.1:p.Val18Met
NM_001302960.1:c.229G>A	NP_001289889.1:p.Val77Met
NM_003977.3:c.229G>A	NP_003968.3:p.Val77Met
XM_024448761.1:c.229G>A	XP_024304529.1:p.Val77Met
NM_003977.4:c.229G>A MANE Select	NP_003968.3:p.Val77Met
NM_001302960.2:c.229G>A	NP_001289889.1:p.Val77Met
NM_001302959.2:c.52G>A	NP_001289888.1:p.Val18Met