Canonical Allele Identifier: CA6140870

Gene: AIP

Linked Data

• ClinVar Variation Id: 825891
• ClinVar RCV Id: RCV001024400 ; RCV001371124
• dbSNP Id: rs750243392
• ExAC: 11:67257607 G / C
• gnomAD v2: 11-67257607-G-C
• gnomAD v4: 11-67490136-G-C
• MyVariant Identifiers: chr11:g.67257607G>C (hg19) ; chr11:g.67490136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490136G>C , CM000673.2:g.67490136G>C	GRCh38
NC_000011.9:g.67257607G>C , CM000673.1:g.67257607G>C	GRCh37
NC_000011.8:g.67014183G>C	NCBI36
NG_008969.1:g.12103G>C , LRG_460:g.12103G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.544G>C
ENST00000528641.7:c.378G>C	ENSP00000434982.3:p.Leu126Phe
ENST00000529797.2:n.1079G>C
ENST00000682324.1:c.468+681G>C	ENSP00000508017.1:n.468+681G>C
ENST00000682659.1:c.198G>C	ENSP00000507351.1:p.Leu66Phe
ENST00000682699.1:c.567G>C	ENSP00000507935.1:p.Leu189Phe
ENST00000683237.1:c.567G>C	ENSP00000507343.1:p.Leu189Phe
ENST00000683856.1:c.390G>C	ENSP00000507979.1:p.Leu130Phe
ENST00000684006.1:c.567G>C	ENSP00000507269.1:p.Leu189Phe
ENST00000684657.1:c.387G>C	ENSP00000507961.1:p.Leu129Phe
ENST00000279146.8:c.567G>C MANE Select	ENSP00000279146.3:p.Leu189Phe
ENST00000279146.7:c.567G>C	ENSP00000279146.3:p.Leu189Phe
ENST00000525341.1:c.219G>C	ENSP00000476993.1:p.Leu73Phe
ENST00000528641.6:c.378G>C	ENSP00000434982.2:p.Leu126Phe
NM_001302959.1:c.390G>C	NP_001289888.1:p.Leu130Phe
NM_001302960.1:c.567G>C	NP_001289889.1:p.Leu189Phe
NM_003977.3:c.567G>C	NP_003968.3:p.Leu189Phe
XM_024448761.1:c.567G>C	XP_024304529.1:p.Leu189Phe
NM_003977.4:c.567G>C MANE Select	NP_003968.3:p.Leu189Phe
NM_001302960.2:c.567G>C	NP_001289889.1:p.Leu189Phe
NM_001302959.2:c.390G>C	NP_001289888.1:p.Leu130Phe