Canonical Allele Identifier: CA381551423

Gene: AIP

Linked Data

• ClinVar Variation Id: 826413
• ClinVar RCV Id: RCV001025282 ; RCV001862318
• dbSNP Id: rs1293512916
• gnomAD v4: 11-67490216-T-C
• MyVariant Identifiers: chr11:g.67257687T>C (hg19) ; chr11:g.67490216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490216T>C , CM000673.2:g.67490216T>C	GRCh38
NC_000011.9:g.67257687T>C , CM000673.1:g.67257687T>C	GRCh37
NC_000011.8:g.67014263T>C	NCBI36
NG_008969.1:g.12183T>C , LRG_460:g.12183T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.622+2T>C
ENST00000528641.7:c.456+2T>C	ENSP00000434982.3:n.456+2T>C
ENST00000529797.2:n.1157+2T>C
ENST00000682324.1:c.468+761T>C	ENSP00000508017.1:n.468+761T>C
ENST00000682659.1:c.276+2T>C	ENSP00000507351.1:n.276+2T>C
ENST00000682699.1:c.645+2T>C	ENSP00000507935.1:n.645+2T>C
ENST00000683237.1:c.645+2T>C	ENSP00000507343.1:n.645+2T>C
ENST00000683856.1:c.468+2T>C	ENSP00000507979.1:n.468+2T>C
ENST00000684006.1:c.645+2T>C	ENSP00000507269.1:n.645+2T>C
ENST00000684657.1:c.465+2T>C	ENSP00000507961.1:n.465+2T>C
ENST00000279146.8:c.645+2T>C MANE Select	ENSP00000279146.3:n.645+2T>C
ENST00000279146.7:c.645+2T>C	ENSP00000279146.3:n.645+2T>C
ENST00000525341.1:c.297+2T>C	ENSP00000476993.1:n.297+2T>C
ENST00000528641.6:c.456+2T>C	ENSP00000434982.2:n.456+2T>C
NM_001302959.1:c.468+2T>C	NP_001289888.1:n.468+2T>C
NM_001302960.1:c.645+2T>C	NP_001289889.1:n.645+2T>C
NM_003977.3:c.645+2T>C	NP_003968.3:n.645+2T>C
XM_024448761.1:c.645+2T>C	XP_024304529.1:n.645+2T>C
NM_003977.4:c.645+2T>C MANE Select	NP_003968.3:n.645+2T>C
NM_001302960.2:c.645+2T>C	NP_001289889.1:n.645+2T>C
NM_001302959.2:c.468+2T>C	NP_001289888.1:n.468+2T>C