Canonical Allele Identifier: CA381551096

Gene: AIP

Linked Data

• dbSNP Id: rs1389766954
• gnomAD v2: 11-67257639-C-T
• MyVariant Identifiers: chr11:g.67257639C>T (hg19) ; chr11:g.67490168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490168C>T , CM000673.2:g.67490168C>T	GRCh38
NC_000011.9:g.67257639C>T , CM000673.1:g.67257639C>T	GRCh37
NC_000011.8:g.67014215C>T	NCBI36
NG_008969.1:g.12135C>T , LRG_460:g.12135C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.576C>T
ENST00000528641.7:c.410C>T	ENSP00000434982.3:p.Ala137Val
ENST00000529797.2:n.1111C>T
ENST00000682324.1:c.468+713C>T	ENSP00000508017.1:n.468+713C>T
ENST00000682659.1:c.230C>T	ENSP00000507351.1:p.Ala77Val
ENST00000682699.1:c.599C>T	ENSP00000507935.1:p.Ala200Val
ENST00000683237.1:c.599C>T	ENSP00000507343.1:p.Ala200Val
ENST00000683856.1:c.422C>T	ENSP00000507979.1:p.Ala141Val
ENST00000684006.1:c.599C>T	ENSP00000507269.1:p.Ala200Val
ENST00000684657.1:c.419C>T	ENSP00000507961.1:p.Ala140Val
ENST00000279146.8:c.599C>T MANE Select	ENSP00000279146.3:p.Ala200Val
ENST00000279146.7:c.599C>T	ENSP00000279146.3:p.Ala200Val
ENST00000525341.1:c.251C>T	ENSP00000476993.1:p.Ala84Val
ENST00000528641.6:c.410C>T	ENSP00000434982.2:p.Ala137Val
NM_001302959.1:c.422C>T	NP_001289888.1:p.Ala141Val
NM_001302960.1:c.599C>T	NP_001289889.1:p.Ala200Val
NM_003977.3:c.599C>T	NP_003968.3:p.Ala200Val
XM_024448761.1:c.599C>T	XP_024304529.1:p.Ala200Val
NM_003977.4:c.599C>T MANE Select	NP_003968.3:p.Ala200Val
NM_001302960.2:c.599C>T	NP_001289889.1:p.Ala200Val
NM_001302959.2:c.422C>T	NP_001289888.1:p.Ala141Val