Canonical Allele Identifier: CA381549700

Gene: AIP

Linked Data

• ClinVar Variation Id: 2735673
• ClinVar RCV Id: RCV003557618
• MyVariant Identifiers: chr11:g.67256885C>T (hg19) ; chr11:g.67489414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67489414C>T , CM000673.2:g.67489414C>T	GRCh38
NC_000011.9:g.67256885C>T , CM000673.1:g.67256885C>T	GRCh37
NC_000011.8:g.67013461C>T	NCBI36
NG_008969.1:g.11381C>T , LRG_460:g.11381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.404C>T
ENST00000528641.7:c.280-624C>T	ENSP00000434982.3:n.280-624C>T
ENST00000529797.2:n.357C>T
ENST00000682324.1:c.427C>T	ENSP00000508017.1:p.Gln143Ter
ENST00000682659.1:c.100-624C>T	ENSP00000507351.1:n.100-624C>T
ENST00000682699.1:c.427C>T	ENSP00000507935.1:p.Gln143Ter
ENST00000683237.1:c.427C>T	ENSP00000507343.1:p.Gln143Ter
ENST00000683856.1:c.250C>T	ENSP00000507979.1:p.Gln84Ter
ENST00000684006.1:c.427C>T	ENSP00000507269.1:p.Gln143Ter
ENST00000684657.1:c.247C>T	ENSP00000507961.1:p.Gln83Ter
ENST00000279146.8:c.427C>T MANE Select	ENSP00000279146.3:p.Gln143Ter
ENST00000279146.7:c.427C>T	ENSP00000279146.3:p.Gln143Ter
ENST00000525341.1:c.79C>T	ENSP00000476993.1:p.Gln27Ter
ENST00000528641.6:c.280-624C>T	ENSP00000434982.2:n.280-624C>T
ENST00000529797.1:n.537C>T
NM_001302959.1:c.250C>T	NP_001289888.1:p.Gln84Ter
NM_001302960.1:c.427C>T	NP_001289889.1:p.Gln143Ter
NM_003977.3:c.427C>T	NP_003968.3:p.Gln143Ter
XM_024448761.1:c.427C>T	XP_024304529.1:p.Gln143Ter
NM_003977.4:c.427C>T MANE Select	NP_003968.3:p.Gln143Ter
NM_001302960.2:c.427C>T	NP_001289889.1:p.Gln143Ter
NM_001302959.2:c.250C>T	NP_001289888.1:p.Gln84Ter