Canonical Allele Identifier: CA381551615

Gene: AIP

Linked Data

• gnomAD v4: 11-67490357-G-T
• MyVariant Identifiers: chr11:g.67257828G>T (hg19) ; chr11:g.67490357G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490357G>T , CM000673.2:g.67490357G>T	GRCh38
NC_000011.9:g.67257828G>T , CM000673.1:g.67257828G>T	GRCh37
NC_000011.8:g.67014404G>T	NCBI36
NG_008969.1:g.12324G>T , LRG_460:g.12324G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.664G>T
ENST00000528641.7:c.498G>T	ENSP00000434982.3:p.Gln166His
ENST00000529797.2:n.1199G>T
ENST00000682324.1:c.469-640G>T	ENSP00000508017.1:n.469-640G>T
ENST00000682659.1:c.318G>T	ENSP00000507351.1:p.Gln106His
ENST00000682699.1:c.687G>T	ENSP00000507935.1:p.Gln229His
ENST00000683237.1:c.687G>T	ENSP00000507343.1:p.Gln229His
ENST00000683856.1:c.510G>T	ENSP00000507979.1:p.Gln170His
ENST00000684006.1:c.687G>T	ENSP00000507269.1:p.Gln229His
ENST00000684657.1:c.507G>T	ENSP00000507961.1:p.Gln169His
ENST00000279146.8:c.687G>T MANE Select	ENSP00000279146.3:p.Gln229His
ENST00000279146.7:c.687G>T	ENSP00000279146.3:p.Gln229His
ENST00000525341.1:c.339G>T	ENSP00000476993.1:p.Gln113His
ENST00000528641.6:c.498G>T	ENSP00000434982.2:p.Gln166His
NM_001302959.1:c.510G>T	NP_001289888.1:p.Gln170His
NM_001302960.1:c.687G>T	NP_001289889.1:p.Gln229His
NM_003977.3:c.687G>T	NP_003968.3:p.Gln229His
XM_024448761.1:c.687G>T	XP_024304529.1:p.Gln229His
NM_003977.4:c.687G>T MANE Select	NP_003968.3:p.Gln229His
NM_001302960.2:c.687G>T	NP_001289889.1:p.Gln229His
NM_001302959.2:c.510G>T	NP_001289888.1:p.Gln170His