Canonical Allele Identifier: CA381551054

Gene: AIP

Linked Data

• ClinVar Variation Id: 1041400
• ClinVar RCV Id: RCV001345200
• dbSNP Id: rs1865874165
• MyVariant Identifiers: chr11:g.67257635G>C (hg19) ; chr11:g.67490164G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490164G>C , CM000673.2:g.67490164G>C	GRCh38
NC_000011.9:g.67257635G>C , CM000673.1:g.67257635G>C	GRCh37
NC_000011.8:g.67014211G>C	NCBI36
NG_008969.1:g.12131G>C , LRG_460:g.12131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.572G>C
ENST00000528641.7:c.406G>C	ENSP00000434982.3:p.Ala136Pro
ENST00000529797.2:n.1107G>C
ENST00000682324.1:c.468+709G>C	ENSP00000508017.1:n.468+709G>C
ENST00000682659.1:c.226G>C	ENSP00000507351.1:p.Ala76Pro
ENST00000682699.1:c.595G>C	ENSP00000507935.1:p.Ala199Pro
ENST00000683237.1:c.595G>C	ENSP00000507343.1:p.Ala199Pro
ENST00000683856.1:c.418G>C	ENSP00000507979.1:p.Ala140Pro
ENST00000684006.1:c.595G>C	ENSP00000507269.1:p.Ala199Pro
ENST00000684657.1:c.415G>C	ENSP00000507961.1:p.Ala139Pro
ENST00000279146.8:c.595G>C MANE Select	ENSP00000279146.3:p.Ala199Pro
ENST00000279146.7:c.595G>C	ENSP00000279146.3:p.Ala199Pro
ENST00000525341.1:c.247G>C	ENSP00000476993.1:p.Ala83Pro
ENST00000528641.6:c.406G>C	ENSP00000434982.2:p.Ala136Pro
NM_001302959.1:c.418G>C	NP_001289888.1:p.Ala140Pro
NM_001302960.1:c.595G>C	NP_001289889.1:p.Ala199Pro
NM_003977.3:c.595G>C	NP_003968.3:p.Ala199Pro
XM_024448761.1:c.595G>C	XP_024304529.1:p.Ala199Pro
NM_003977.4:c.595G>C MANE Select	NP_003968.3:p.Ala199Pro
NM_001302960.2:c.595G>C	NP_001289889.1:p.Ala199Pro
NM_001302959.2:c.418G>C	NP_001289888.1:p.Ala140Pro