Canonical Allele Identifier: CA475509544

Gene: AIP

Linked Data

• ClinVar Variation Id: 2189695
• ClinVar RCV Id: RCV002611749
• gnomAD v4: 11-67490864-T-C
• MyVariant Identifiers: chr11:g.67258335T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490864T>C , CM000673.2:g.67490864T>C	GRCh38
NC_000011.9:g.67258335T>C , CM000673.1:g.67258335T>C	GRCh37
NC_000011.8:g.67014911T>C	NCBI36
NG_008969.1:g.12831T>C , LRG_460:g.12831T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.1171T>C
ENST00000528641.7:c.675T>C	ENSP00000434982.3:p.Phe225=
ENST00000529797.2:n.1706T>C
ENST00000682324.1:c.469-133T>C	ENSP00000508017.1:n.469-133T>C
ENST00000682659.1:c.495T>C	ENSP00000507351.1:p.Phe165=
ENST00000682699.1:c.864T>C	ENSP00000507935.1:p.Phe288=
ENST00000683237.1:c.*4T>C	ENSP00000507343.1:n.*4T>C
ENST00000683856.1:c.687T>C	ENSP00000507979.1:p.Phe229=
ENST00000684006.1:c.*4T>C	ENSP00000507269.1:n.*4T>C
ENST00000684657.1:c.684T>C	ENSP00000507961.1:p.Phe228=
ENST00000279146.8:c.864T>C MANE Select	ENSP00000279146.3:p.Phe288=
ENST00000279146.7:c.864T>C	ENSP00000279146.3:p.Phe288=
ENST00000528641.6:c.675T>C	ENSP00000434982.2:p.Phe225=
NM_001302959.1:c.687T>C	NP_001289888.1:p.Phe229=
NM_001302960.1:c.*4T>C	NP_001289889.1:n.*4T>C
NM_003977.3:c.864T>C	NP_003968.3:p.Phe288=
XM_024448761.1:c.864T>C	XP_024304529.1:p.Phe288=
NM_003977.4:c.864T>C MANE Select	NP_003968.3:p.Phe288=
NM_001302960.2:c.*4T>C	NP_001289889.1:n.*4T>C
NM_001302959.2:c.687T>C	NP_001289888.1:p.Phe229=