Canonical Allele Identifier: CA381547170

Gene: AIP

Linked Data

• ClinVar Variation Id: 1790270
• ClinVar RCV Id: RCV002450164 ; RCV003730217
• dbSNP Id: rs1865807701
• gnomAD v4: 11-67487142-C-T
• MyVariant Identifiers: chr11:g.67254613C>T (hg19) ; chr11:g.67487142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487142C>T , CM000673.2:g.67487142C>T	GRCh38
NC_000011.9:g.67254613C>T , CM000673.1:g.67254613C>T	GRCh37
NC_000011.8:g.67011189C>T	NCBI36
NG_008969.1:g.9109C>T , LRG_460:g.9109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.213C>T
ENST00000528641.7:c.236C>T	ENSP00000434982.3:p.Thr79Ile
ENST00000529797.2:n.166C>T
ENST00000682324.1:c.236C>T	ENSP00000508017.1:p.Thr79Ile
ENST00000682659.1:c.100-2896C>T	ENSP00000507351.1:n.100-2896C>T
ENST00000682699.1:c.236C>T	ENSP00000507935.1:p.Thr79Ile
ENST00000683237.1:c.236C>T	ENSP00000507343.1:p.Thr79Ile
ENST00000683856.1:c.59C>T	ENSP00000507979.1:p.Thr20Ile
ENST00000684006.1:c.236C>T	ENSP00000507269.1:p.Thr79Ile
ENST00000684657.1:c.100-2125C>T	ENSP00000507961.1:n.100-2125C>T
ENST00000279146.8:c.236C>T MANE Select	ENSP00000279146.3:p.Thr79Ile
ENST00000279146.7:c.236C>T	ENSP00000279146.3:p.Thr79Ile
ENST00000528641.6:c.236C>T	ENSP00000434982.2:p.Thr79Ile
ENST00000529797.1:n.346C>T
NM_001302959.1:c.59C>T	NP_001289888.1:p.Thr20Ile
NM_001302960.1:c.236C>T	NP_001289889.1:p.Thr79Ile
NM_003977.3:c.236C>T	NP_003968.3:p.Thr79Ile
XM_024448761.1:c.236C>T	XP_024304529.1:p.Thr79Ile
NM_003977.4:c.236C>T MANE Select	NP_003968.3:p.Thr79Ile
NM_001302960.2:c.236C>T	NP_001289889.1:p.Thr79Ile
NM_001302959.2:c.59C>T	NP_001289888.1:p.Thr20Ile