Canonical Allele Identifier: CA381546963

Gene: AIP

Linked Data

• ClinVar Variation Id: 1784747
• ClinVar RCV Id: RCV002419776
• MyVariant Identifiers: chr11:g.67254579T>C (hg19) ; chr11:g.67487108T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487108T>C , CM000673.2:g.67487108T>C	GRCh38
NC_000011.9:g.67254579T>C , CM000673.1:g.67254579T>C	GRCh37
NC_000011.8:g.67011155T>C	NCBI36
NG_008969.1:g.9075T>C , LRG_460:g.9075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.179T>C
ENST00000528641.7:c.202T>C	ENSP00000434982.3:p.Phe68Leu
ENST00000529797.2:n.132T>C
ENST00000682324.1:c.202T>C	ENSP00000508017.1:p.Phe68Leu
ENST00000682659.1:c.100-2930T>C	ENSP00000507351.1:n.100-2930T>C
ENST00000682699.1:c.202T>C	ENSP00000507935.1:p.Phe68Leu
ENST00000683237.1:c.202T>C	ENSP00000507343.1:p.Phe68Leu
ENST00000683856.1:c.25T>C	ENSP00000507979.1:p.Phe9Leu
ENST00000684006.1:c.202T>C	ENSP00000507269.1:p.Phe68Leu
ENST00000684657.1:c.100-2159T>C	ENSP00000507961.1:n.100-2159T>C
ENST00000279146.8:c.202T>C MANE Select	ENSP00000279146.3:p.Phe68Leu
ENST00000279146.7:c.202T>C	ENSP00000279146.3:p.Phe68Leu
ENST00000528641.6:c.202T>C	ENSP00000434982.2:p.Phe68Leu
ENST00000529797.1:n.312T>C
NM_001302959.1:c.25T>C	NP_001289888.1:p.Phe9Leu
NM_001302960.1:c.202T>C	NP_001289889.1:p.Phe68Leu
NM_003977.3:c.202T>C	NP_003968.3:p.Phe68Leu
XM_024448761.1:c.202T>C	XP_024304529.1:p.Phe68Leu
NM_003977.4:c.202T>C MANE Select	NP_003968.3:p.Phe68Leu
NM_001302960.2:c.202T>C	NP_001289889.1:p.Phe68Leu
NM_001302959.2:c.25T>C	NP_001289888.1:p.Phe9Leu