Canonical Allele Identifier: CA381551368

Gene: AIP

Linked Data

• ClinVar Variation Id: 1753434
• ClinVar RCV Id: RCV002361677
• dbSNP Id: rs1267951005
• gnomAD v2: 11-67257681-T-G
• gnomAD v4: 11-67490210-T-G
• MyVariant Identifiers: chr11:g.67257681T>G (hg19) ; chr11:g.67490210T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490210T>G , CM000673.2:g.67490210T>G	GRCh38
NC_000011.9:g.67257681T>G , CM000673.1:g.67257681T>G	GRCh37
NC_000011.8:g.67014257T>G	NCBI36
NG_008969.1:g.12177T>G , LRG_460:g.12177T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.618T>G
ENST00000528641.7:c.452T>G	ENSP00000434982.3:p.Met151Arg
ENST00000529797.2:n.1153T>G
ENST00000682324.1:c.468+755T>G	ENSP00000508017.1:n.468+755T>G
ENST00000682659.1:c.272T>G	ENSP00000507351.1:p.Met91Arg
ENST00000682699.1:c.641T>G	ENSP00000507935.1:p.Met214Arg
ENST00000683237.1:c.641T>G	ENSP00000507343.1:p.Met214Arg
ENST00000683856.1:c.464T>G	ENSP00000507979.1:p.Met155Arg
ENST00000684006.1:c.641T>G	ENSP00000507269.1:p.Met214Arg
ENST00000684657.1:c.461T>G	ENSP00000507961.1:p.Met154Arg
ENST00000279146.8:c.641T>G MANE Select	ENSP00000279146.3:p.Met214Arg
ENST00000279146.7:c.641T>G	ENSP00000279146.3:p.Met214Arg
ENST00000525341.1:c.293T>G	ENSP00000476993.1:p.Met98Arg
ENST00000528641.6:c.452T>G	ENSP00000434982.2:p.Met151Arg
NM_001302959.1:c.464T>G	NP_001289888.1:p.Met155Arg
NM_001302960.1:c.641T>G	NP_001289889.1:p.Met214Arg
NM_003977.3:c.641T>G	NP_003968.3:p.Met214Arg
XM_024448761.1:c.641T>G	XP_024304529.1:p.Met214Arg
NM_003977.4:c.641T>G MANE Select	NP_003968.3:p.Met214Arg
NM_001302960.2:c.641T>G	NP_001289889.1:p.Met214Arg
NM_001302959.2:c.464T>G	NP_001289888.1:p.Met155Arg