Canonical Allele Identifier: CA381555143

Gene: AIP

Linked Data

• ClinVar Variation Id: 1692755
• ClinVar RCV Id: RCV002258623 ; RCV003774786
• dbSNP Id: rs1038039525
• MyVariant Identifiers: chr11:g.67258357C>T (hg19) ; chr11:g.67490886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490886C>T , CM000673.2:g.67490886C>T	GRCh38
NC_000011.9:g.67258357C>T , CM000673.1:g.67258357C>T	GRCh37
NC_000011.8:g.67014933C>T	NCBI36
NG_008969.1:g.12853C>T , LRG_460:g.12853C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1193C>T
ENST00000528641.7:c.697C>T	ENSP00000434982.3:p.Pro233Ser
ENST00000529797.2:n.1728C>T
ENST00000682324.1:c.469-111C>T	ENSP00000508017.1:n.469-111C>T
ENST00000682659.1:c.517C>T	ENSP00000507351.1:p.Pro173Ser
ENST00000682699.1:c.886C>T	ENSP00000507935.1:p.Pro296Ser
ENST00000683237.1:c.*26C>T	ENSP00000507343.1:n.*26C>T
ENST00000683856.1:c.709C>T	ENSP00000507979.1:p.Pro237Ser
ENST00000684006.1:c.*26C>T	ENSP00000507269.1:n.*26C>T
ENST00000684657.1:c.706C>T	ENSP00000507961.1:p.Pro236Ser
ENST00000279146.8:c.886C>T MANE Select	ENSP00000279146.3:p.Pro296Ser
ENST00000279146.7:c.886C>T	ENSP00000279146.3:p.Pro296Ser
ENST00000528641.6:c.697C>T
NM_001302959.1:c.709C>T	NP_001289888.1:p.Pro237Ser
NM_001302960.1:c.*26C>T	NP_001289889.1:n.*26C>T
NM_003977.3:c.886C>T	NP_003968.3:p.Pro296Ser
XM_024448761.1:c.886C>T	XP_024304529.1:p.Pro296Ser
NM_003977.4:c.886C>T MANE Select	NP_003968.3:p.Pro296Ser
NM_001302960.2:c.*26C>T	NP_001289889.1:n.*26C>T
NM_001302959.2:c.709C>T	NP_001289888.1:p.Pro237Ser