Canonical Allele Identifier: CA381554557

Gene: AIP

Linked Data

• ClinVar Variation Id: 1981486
• ClinVar RCV Id: RCV002751498
• gnomAD v4: 11-67490823-C-T
• MyVariant Identifiers: chr11:g.67258294C>T (hg19) ; chr11:g.67490823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490823C>T , CM000673.2:g.67490823C>T	GRCh38
NC_000011.9:g.67258294C>T , CM000673.1:g.67258294C>T	GRCh37
NC_000011.8:g.67014870C>T	NCBI36
NG_008969.1:g.12790C>T , LRG_460:g.12790C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1130C>T
ENST00000528641.7:c.634C>T	ENSP00000434982.3:p.His212Tyr
ENST00000529797.2:n.1665C>T
ENST00000682324.1:c.469-174C>T	ENSP00000508017.1:n.469-174C>T
ENST00000682659.1:c.454C>T	ENSP00000507351.1:p.His152Tyr
ENST00000682699.1:c.823C>T	ENSP00000507935.1:p.His275Tyr
ENST00000683237.1:c.815C>T	ENSP00000507343.1:p.Pro272Leu
ENST00000683856.1:c.646C>T	ENSP00000507979.1:p.His216Tyr
ENST00000684006.1:c.812C>T	ENSP00000507269.1:p.Pro271Leu
ENST00000684657.1:c.643C>T	ENSP00000507961.1:p.His215Tyr
ENST00000279146.8:c.823C>T MANE Select	ENSP00000279146.3:p.His275Tyr
ENST00000279146.7:c.823C>T	ENSP00000279146.3:p.His275Tyr
ENST00000528641.6:c.634C>T	ENSP00000434982.2:p.His212Tyr
NM_001302959.1:c.646C>T	NP_001289888.1:p.His216Tyr
NM_001302960.1:c.815C>T	NP_001289889.1:p.Pro272Leu
NM_003977.3:c.823C>T	NP_003968.3:p.His275Tyr
XM_024448761.1:c.823C>T	XP_024304529.1:p.His275Tyr
NM_003977.4:c.823C>T MANE Select	NP_003968.3:p.His275Tyr
NM_001302960.2:c.815C>T	NP_001289889.1:p.Pro272Leu
NM_001302959.2:c.646C>T	NP_001289888.1:p.His216Tyr