Canonical Allele Identifier: CA679494033

Gene: AIP

Linked Data

• ClinVar Variation Id: 1957304
• ClinVar RCV Id: RCV002706199
• dbSNP Id: rs1443349195
• gnomAD v3: 11-67490218-C-G
• gnomAD v4: 11-67490218-C-G
• MyVariant Identifiers: chr11:g.67257689C>G (hg19) ; chr11:g.67490218C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490218C>G , CM000673.2:g.67490218C>G	GRCh38
NC_000011.9:g.67257689C>G , CM000673.1:g.67257689C>G	GRCh37
NC_000011.8:g.67014265C>G	NCBI36
NG_008969.1:g.12185C>G , LRG_460:g.12185C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.622+4C>G
ENST00000528641.7:c.456+4C>G	ENSP00000434982.3:n.456+4C>G
ENST00000529797.2:n.1157+4C>G
ENST00000682324.1:c.468+763C>G	ENSP00000508017.1:n.468+763C>G
ENST00000682659.1:c.276+4C>G	ENSP00000507351.1:n.276+4C>G
ENST00000682699.1:c.645+4C>G	ENSP00000507935.1:n.645+4C>G
ENST00000683237.1:c.645+4C>G	ENSP00000507343.1:n.645+4C>G
ENST00000683856.1:c.468+4C>G	ENSP00000507979.1:n.468+4C>G
ENST00000684006.1:c.645+4C>G	ENSP00000507269.1:n.645+4C>G
ENST00000684657.1:c.465+4C>G	ENSP00000507961.1:n.465+4C>G
ENST00000279146.8:c.645+4C>G MANE Select	ENSP00000279146.3:n.645+4C>G
ENST00000279146.7:c.645+4C>G	ENSP00000279146.3:n.645+4C>G
ENST00000525341.1:c.297+4C>G	ENSP00000476993.1:n.297+4C>G
ENST00000528641.6:c.456+4C>G	ENSP00000434982.2:n.456+4C>G
NM_001302959.1:c.468+4C>G	NP_001289888.1:n.468+4C>G
NM_001302960.1:c.645+4C>G	NP_001289889.1:n.645+4C>G
NM_003977.3:c.645+4C>G	NP_003968.3:n.645+4C>G
XM_024448761.1:c.645+4C>G	XP_024304529.1:n.645+4C>G
NM_003977.4:c.645+4C>G MANE Select	NP_003968.3:n.645+4C>G
NM_001302960.2:c.645+4C>G	NP_001289889.1:n.645+4C>G
NM_001302959.2:c.468+4C>G	NP_001289888.1:n.468+4C>G