Canonical Allele Identifier: CA381555100

Gene: AIP

Linked Data

• ClinVar Variation Id: 2675388
• ClinVar RCV Id: RCV003468087
• MyVariant Identifiers: chr11:g.67258350G>T (hg19) ; chr11:g.67490879G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490879G>T , CM000673.2:g.67490879G>T	GRCh38
NC_000011.9:g.67258350G>T , CM000673.1:g.67258350G>T	GRCh37
NC_000011.8:g.67014926G>T	NCBI36
NG_008969.1:g.12846G>T , LRG_460:g.12846G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1186G>T
ENST00000528641.7:c.690G>T	ENSP00000434982.3:p.Glu230Asp
ENST00000529797.2:n.1721G>T
ENST00000682324.1:c.469-118G>T	ENSP00000508017.1:n.469-118G>T
ENST00000682659.1:c.510G>T	ENSP00000507351.1:p.Glu170Asp
ENST00000682699.1:c.879G>T	ENSP00000507935.1:p.Glu293Asp
ENST00000683237.1:c.*19G>T	ENSP00000507343.1:n.*19G>T
ENST00000683856.1:c.702G>T	ENSP00000507979.1:p.Glu234Asp
ENST00000684006.1:c.*19G>T	ENSP00000507269.1:n.*19G>T
ENST00000684657.1:c.699G>T	ENSP00000507961.1:p.Glu233Asp
ENST00000279146.8:c.879G>T MANE Select	ENSP00000279146.3:p.Glu293Asp
ENST00000279146.7:c.879G>T	ENSP00000279146.3:p.Glu293Asp
ENST00000528641.6:c.690G>T	ENSP00000434982.2:p.Glu230Asp
NM_001302959.1:c.702G>T	NP_001289888.1:p.Glu234Asp
NM_001302960.1:c.*19G>T	NP_001289889.1:n.*19G>T
NM_003977.3:c.879G>T	NP_003968.3:p.Glu293Asp
XM_024448761.1:c.879G>T	XP_024304529.1:p.Glu293Asp
NM_003977.4:c.879G>T MANE Select	NP_003968.3:p.Glu293Asp
NM_001302960.2:c.*19G>T	NP_001289889.1:n.*19G>T
NM_001302959.2:c.702G>T	NP_001289888.1:p.Glu234Asp