Canonical Allele Identifier: CA381549404

Gene: AIP

Linked Data

• ClinVar Variation Id: 2874782
• ClinVar RCV Id: RCV003714709
• dbSNP Id: rs1459480763
• gnomAD v2: 11-67256834-C-T
• MyVariant Identifiers: chr11:g.67256834C>T (hg19) ; chr11:g.67489363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67489363C>T , CM000673.2:g.67489363C>T	GRCh38
NC_000011.9:g.67256834C>T , CM000673.1:g.67256834C>T	GRCh37
NC_000011.8:g.67013410C>T	NCBI36
NG_008969.1:g.11330C>T , LRG_460:g.11330C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.353C>T
ENST00000528641.7:c.280-675C>T	ENSP00000434982.3:n.280-675C>T
ENST00000529797.2:n.306C>T
ENST00000682324.1:c.376C>T	ENSP00000508017.1:p.Gln126Ter
ENST00000682659.1:c.100-675C>T	ENSP00000507351.1:n.100-675C>T
ENST00000682699.1:c.376C>T	ENSP00000507935.1:p.Gln126Ter
ENST00000683237.1:c.376C>T	ENSP00000507343.1:p.Gln126Ter
ENST00000683856.1:c.199C>T	ENSP00000507979.1:p.Gln67Ter
ENST00000684006.1:c.376C>T	ENSP00000507269.1:p.Gln126Ter
ENST00000684657.1:c.196C>T	ENSP00000507961.1:p.Gln66Ter
ENST00000279146.8:c.376C>T MANE Select	ENSP00000279146.3:p.Gln126Ter
ENST00000279146.7:c.376C>T	ENSP00000279146.3:p.Gln126Ter
ENST00000525341.1:c.28C>T	ENSP00000476993.1:p.Gln10Ter
ENST00000528641.6:c.280-675C>T	ENSP00000434982.2:n.280-675C>T
ENST00000529797.1:n.486C>T
NM_001302959.1:c.199C>T	NP_001289888.1:p.Gln67Ter
NM_001302960.1:c.376C>T	NP_001289889.1:p.Gln126Ter
NM_003977.3:c.376C>T	NP_003968.3:p.Gln126Ter
XM_024448761.1:c.376C>T	XP_024304529.1:p.Gln126Ter
NM_003977.4:c.376C>T MANE Select	NP_003968.3:p.Gln126Ter
NM_001302960.2:c.376C>T	NP_001289889.1:p.Gln126Ter
NM_001302959.2:c.199C>T	NP_001289888.1:p.Gln67Ter