Canonical Allele Identifier: CA381551936

Gene: AIP

Linked Data

• ClinVar Variation Id: 2873233
• ClinVar RCV Id: RCV003709767
• MyVariant Identifiers: chr11:g.67257918C>G (hg19) ; chr11:g.67490447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490447C>G , CM000673.2:g.67490447C>G	GRCh38
NC_000011.9:g.67257918C>G , CM000673.1:g.67257918C>G	GRCh37
NC_000011.8:g.67014494C>G	NCBI36
NG_008969.1:g.12414C>G , LRG_460:g.12414C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.754C>G
ENST00000528641.7:c.588C>G	ENSP00000434982.3:p.Asn196Lys
ENST00000529797.2:n.1289C>G
ENST00000682324.1:c.469-550C>G	ENSP00000508017.1:n.469-550C>G
ENST00000682659.1:c.408C>G	ENSP00000507351.1:p.Asn136Lys
ENST00000682699.1:c.777C>G	ENSP00000507935.1:p.Asn259Lys
ENST00000683237.1:c.777C>G	ENSP00000507343.1:p.Asn259Lys
ENST00000683856.1:c.600C>G	ENSP00000507979.1:p.Asn200Lys
ENST00000684006.1:c.777C>G	ENSP00000507269.1:p.Asn259Lys
ENST00000684657.1:c.597C>G	ENSP00000507961.1:p.Asn199Lys
ENST00000279146.8:c.777C>G MANE Select	ENSP00000279146.3:p.Asn259Lys
ENST00000279146.7:c.777C>G	ENSP00000279146.3:p.Asn259Lys
ENST00000525341.1:c.429C>G	ENSP00000476993.1:p.Asn143Lys
ENST00000528641.6:c.588C>G	ENSP00000434982.2:p.Asn196Lys
NM_001302959.1:c.600C>G	NP_001289888.1:p.Asn200Lys
NM_001302960.1:c.777C>G	NP_001289889.1:p.Asn259Lys
NM_003977.3:c.777C>G	NP_003968.3:p.Asn259Lys
XM_024448761.1:c.777C>G	XP_024304529.1:p.Asn259Lys
NM_003977.4:c.777C>G MANE Select	NP_003968.3:p.Asn259Lys
NM_001302960.2:c.777C>G	NP_001289889.1:p.Asn259Lys
NM_001302959.2:c.600C>G	NP_001289888.1:p.Asn200Lys