Canonical Allele Identifier: CA381554500

Gene: AIP

Linked Data

• ClinVar Variation Id: 1762335
• ClinVar RCV Id: RCV002427831
• MyVariant Identifiers: chr11:g.67258289A>C (hg19) ; chr11:g.67490818A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490818A>C , CM000673.2:g.67490818A>C	GRCh38
NC_000011.9:g.67258289A>C , CM000673.1:g.67258289A>C	GRCh37
NC_000011.8:g.67014865A>C	NCBI36
NG_008969.1:g.12785A>C , LRG_460:g.12785A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1125A>C
ENST00000528641.7:c.629A>C	ENSP00000434982.3:p.Lys210Thr
ENST00000529797.2:n.1660A>C
ENST00000682324.1:c.469-179A>C	ENSP00000508017.1:n.469-179A>C
ENST00000682659.1:c.449A>C	ENSP00000507351.1:p.Lys150Thr
ENST00000682699.1:c.818A>C	ENSP00000507935.1:p.Lys273Thr
ENST00000683237.1:c.810A>C	ENSP00000507343.1:p.Gln270His
ENST00000683856.1:c.641A>C	ENSP00000507979.1:p.Lys214Thr
ENST00000684006.1:c.807A>C	ENSP00000507269.1:p.Gln269His
ENST00000684657.1:c.638A>C	ENSP00000507961.1:p.Lys213Thr
ENST00000279146.8:c.818A>C MANE Select	ENSP00000279146.3:p.Lys273Thr
ENST00000279146.7:c.818A>C	ENSP00000279146.3:p.Lys273Thr
ENST00000528641.6:c.629A>C	ENSP00000434982.2:p.Lys210Thr
NM_001302959.1:c.641A>C	NP_001289888.1:p.Lys214Thr
NM_001302960.1:c.810A>C	NP_001289889.1:p.Gln270His
NM_003977.3:c.818A>C	NP_003968.3:p.Lys273Thr
XM_024448761.1:c.818A>C	XP_024304529.1:p.Lys273Thr
NM_003977.4:c.818A>C MANE Select	NP_003968.3:p.Lys273Thr
NM_001302960.2:c.810A>C	NP_001289889.1:p.Gln270His
NM_001302959.2:c.641A>C	NP_001289888.1:p.Lys214Thr