Canonical Allele Identifier: CA381555374

Gene: AIP

Linked Data

• ClinVar Variation Id: 2822774
• ClinVar RCV Id: RCV003714237
• gnomAD v4: 11-67490928-G-T
• MyVariant Identifiers: chr11:g.67258399G>T (hg19) ; chr11:g.67490928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490928G>T , CM000673.2:g.67490928G>T	GRCh38
NC_000011.9:g.67258399G>T , CM000673.1:g.67258399G>T	GRCh37
NC_000011.8:g.67014975G>T	NCBI36
NG_008969.1:g.12895G>T , LRG_460:g.12895G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1235G>T
ENST00000528641.7:c.739G>T	ENSP00000434982.3:p.Glu247Ter
ENST00000529797.2:n.1770G>T
ENST00000682324.1:c.469-69G>T	ENSP00000508017.1:n.469-69G>T
ENST00000682659.1:c.559G>T	ENSP00000507351.1:p.Glu187Ter
ENST00000682699.1:c.928G>T	ENSP00000507935.1:p.Glu310Ter
ENST00000683237.1:c.*68G>T	ENSP00000507343.1:n.*68G>T
ENST00000683856.1:c.751G>T	ENSP00000507979.1:p.Glu251Ter
ENST00000684006.1:c.*68G>T	ENSP00000507269.1:n.*68G>T
ENST00000684657.1:c.748G>T	ENSP00000507961.1:p.Glu250Ter
ENST00000279146.8:c.928G>T MANE Select	ENSP00000279146.3:p.Glu310Ter
ENST00000279146.7:c.928G>T	ENSP00000279146.3:p.Glu310Ter
NM_001302959.1:c.751G>T	NP_001289888.1:p.Glu251Ter
NM_001302960.1:c.*68G>T	NP_001289889.1:n.*68G>T
NM_003977.3:c.928G>T	NP_003968.3:p.Glu310Ter
XM_024448761.1:c.928G>T	XP_024304529.1:p.Glu310Ter
NM_003977.4:c.928G>T MANE Select	NP_003968.3:p.Glu310Ter
NM_001302960.2:c.*68G>T	NP_001289889.1:n.*68G>T
NM_001302959.2:c.751G>T	NP_001289888.1:p.Glu251Ter