Canonical Allele Identifier: CA381554722

Gene: AIP

Linked Data

• ClinVar Variation Id: 2813549
• ClinVar RCV Id: RCV003680497
• MyVariant Identifiers: chr11:g.67258310A>G (hg19) ; chr11:g.67490839A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490839A>G , CM000673.2:g.67490839A>G	GRCh38
NC_000011.9:g.67258310A>G , CM000673.1:g.67258310A>G	GRCh37
NC_000011.8:g.67014886A>G	NCBI36
NG_008969.1:g.12806A>G , LRG_460:g.12806A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1146A>G
ENST00000528641.7:c.650A>G	ENSP00000434982.3:p.Asn217Ser
ENST00000529797.2:n.1681A>G
ENST00000682324.1:c.469-158A>G	ENSP00000508017.1:n.469-158A>G
ENST00000682659.1:c.470A>G	ENSP00000507351.1:p.Asn157Ser
ENST00000682699.1:c.839A>G	ENSP00000507935.1:p.Asn280Ser
ENST00000683237.1:c.831A>G	ENSP00000507343.1:p.Glu277=
ENST00000683856.1:c.662A>G	ENSP00000507979.1:p.Asn221Ser
ENST00000684006.1:c.828A>G	ENSP00000507269.1:p.Glu276=
ENST00000684657.1:c.659A>G	ENSP00000507961.1:p.Asn220Ser
ENST00000279146.8:c.839A>G MANE Select	ENSP00000279146.3:p.Asn280Ser
ENST00000279146.7:c.839A>G	ENSP00000279146.3:p.Asn280Ser
ENST00000528641.6:c.650A>G	ENSP00000434982.2:p.Asn217Ser
NM_001302959.1:c.662A>G	NP_001289888.1:p.Asn221Ser
NM_001302960.1:c.831A>G	NP_001289889.1:p.Glu277=
NM_003977.3:c.839A>G	NP_003968.3:p.Asn280Ser
XM_024448761.1:c.839A>G	XP_024304529.1:p.Asn280Ser
NM_003977.4:c.839A>G MANE Select	NP_003968.3:p.Asn280Ser
NM_001302960.2:c.831A>G	NP_001289889.1:p.Glu277=
NM_001302959.2:c.662A>G	NP_001289888.1:p.Asn221Ser