Canonical Allele Identifier: CA600236216

Gene: AIP

Linked Data

• dbSNP Id: rs1249162947
• gnomAD v2: 11-67258187-T-C
• gnomAD v3: 11-67490716-T-C
• gnomAD v4: 11-67490716-T-C
• MyVariant Identifiers: chr11:g.67258187T>C (hg19) ; chr11:g.67490716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490716T>C , CM000673.2:g.67490716T>C	GRCh38
NC_000011.9:g.67258187T>C , CM000673.1:g.67258187T>C	GRCh37
NC_000011.8:g.67014763T>C	NCBI36
NG_008969.1:g.12683T>C , LRG_460:g.12683T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1023T>C
ENST00000528641.7:c.599-72T>C	ENSP00000434982.3:n.599-72T>C
ENST00000529797.2:n.1558T>C
ENST00000682324.1:c.469-281T>C	ENSP00000508017.1:n.469-281T>C
ENST00000682659.1:c.419-72T>C	ENSP00000507351.1:n.419-72T>C
ENST00000682699.1:c.788-72T>C	ENSP00000507935.1:n.788-72T>C
ENST00000683237.1:c.780-72T>C	ENSP00000507343.1:n.780-72T>C
ENST00000683856.1:c.611-72T>C	ENSP00000507979.1:n.611-72T>C
ENST00000684006.1:c.788-83T>C	ENSP00000507269.1:n.788-83T>C
ENST00000684657.1:c.608-72T>C	ENSP00000507961.1:n.608-72T>C
ENST00000279146.8:c.788-72T>C MANE Select	ENSP00000279146.3:n.788-72T>C
ENST00000279146.7:c.788-72T>C	ENSP00000279146.3:n.788-72T>C
ENST00000528641.6:c.599-72T>C	ENSP00000434982.2:n.599-72T>C
NM_001302959.1:c.611-72T>C	NP_001289888.1:n.611-72T>C
NM_001302960.1:c.780-72T>C	NP_001289889.1:n.780-72T>C
NM_003977.3:c.788-72T>C	NP_003968.3:n.788-72T>C
XM_024448761.1:c.788-72T>C	XP_024304529.1:n.788-72T>C
NM_003977.4:c.788-72T>C MANE Select	NP_003968.3:n.788-72T>C
NM_001302960.2:c.780-72T>C	NP_001289889.1:n.780-72T>C
NM_001302959.2:c.611-72T>C	NP_001289888.1:n.611-72T>C