Canonical Allele Identifier: CA381551362

Gene: AIP

Linked Data

• dbSNP Id: rs1194776324
• gnomAD v3: 11-67490208-G-C
• gnomAD v4: 11-67490208-G-C
• MyVariant Identifiers: chr11:g.67257679G>C (hg19) ; chr11:g.67490208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490208G>C , CM000673.2:g.67490208G>C	GRCh38
NC_000011.9:g.67257679G>C , CM000673.1:g.67257679G>C	GRCh37
NC_000011.8:g.67014255G>C	NCBI36
NG_008969.1:g.12175G>C , LRG_460:g.12175G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.616G>C
ENST00000528641.7:c.450G>C	ENSP00000434982.3:p.Gln150His
ENST00000529797.2:n.1151G>C
ENST00000682324.1:c.468+753G>C	ENSP00000508017.1:n.468+753G>C
ENST00000682659.1:c.270G>C	ENSP00000507351.1:p.Gln90His
ENST00000682699.1:c.639G>C	ENSP00000507935.1:p.Gln213His
ENST00000683237.1:c.639G>C	ENSP00000507343.1:p.Gln213His
ENST00000683856.1:c.462G>C	ENSP00000507979.1:p.Gln154His
ENST00000684006.1:c.639G>C	ENSP00000507269.1:p.Gln213His
ENST00000684657.1:c.459G>C	ENSP00000507961.1:p.Gln153His
ENST00000279146.8:c.639G>C MANE Select	ENSP00000279146.3:p.Gln213His
ENST00000279146.7:c.639G>C	ENSP00000279146.3:p.Gln213His
ENST00000525341.1:c.291G>C	ENSP00000476993.1:p.Gln97His
ENST00000528641.6:c.450G>C	ENSP00000434982.2:p.Gln150His
NM_001302959.1:c.462G>C	NP_001289888.1:p.Gln154His
NM_001302960.1:c.639G>C	NP_001289889.1:p.Gln213His
NM_003977.3:c.639G>C	NP_003968.3:p.Gln213His
XM_024448761.1:c.639G>C	XP_024304529.1:p.Gln213His
NM_003977.4:c.639G>C MANE Select	NP_003968.3:p.Gln213His
NM_001302960.2:c.639G>C	NP_001289889.1:p.Gln213His
NM_001302959.2:c.462G>C	NP_001289888.1:p.Gln154His