Canonical Allele Identifier: CA475509757

Gene: AIP

Linked Data

• ClinVar Variation Id: 3223634
• ClinVar RCV Id: RCV004516398
• dbSNP Id: rs1407242364
• gnomAD v4: 11-67490978-G-T
• MyVariant Identifiers: chr11:g.67258449G>T (hg19) ; chr11:g.67490978G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490978G>T , CM000673.2:g.67490978G>T	GRCh38
NC_000011.9:g.67258449G>T , CM000673.1:g.67258449G>T	GRCh37
NC_000011.8:g.67015025G>T	NCBI36
NG_008969.1:g.12945G>T , LRG_460:g.12945G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1285G>T
ENST00000528641.7:c.789G>T	ENSP00000434982.3:p.Gly263=
ENST00000529797.2:n.1820G>T
ENST00000682324.1:c.469-19G>T	ENSP00000508017.1:n.469-19G>T
ENST00000682659.1:c.609G>T	ENSP00000507351.1:p.Gly203=
ENST00000683237.1:c.*118G>T	ENSP00000507343.1:n.*118G>T
ENST00000683856.1:c.801G>T	ENSP00000507979.1:p.Gly267=
ENST00000684006.1:c.*118G>T	ENSP00000507269.1:n.*118G>T
ENST00000684657.1:c.798G>T	ENSP00000507961.1:p.Gly266=
ENST00000279146.8:c.978G>T MANE Select	ENSP00000279146.3:p.Gly326=
ENST00000279146.7:c.978G>T	ENSP00000279146.3:p.Gly326=
NM_001302959.1:c.801G>T	NP_001289888.1:p.Gly267=
NM_001302960.1:c.*118G>T	NP_001289889.1:n.*118G>T
NM_003977.3:c.978G>T	NP_003968.3:p.Gly326=
XM_024448761.1:c.978G>T	XP_024304529.1:p.Gly326=
NM_003977.4:c.978G>T MANE Select	NP_003968.3:p.Gly326=
NM_001302960.2:c.*118G>T	NP_001289889.1:n.*118G>T
NM_001302959.2:c.801G>T	NP_001289888.1:p.Gly267=