Canonical Allele Identifier: CA381546617

Gene: AIP

Linked Data

• ClinVar Variation Id: 1774401
• ClinVar RCV Id: RCV002392403
• MyVariant Identifiers: chr11:g.67254528G>C (hg19) ; chr11:g.67487057G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487057G>C , CM000673.2:g.67487057G>C	GRCh38
NC_000011.9:g.67254528G>C , CM000673.1:g.67254528G>C	GRCh37
NC_000011.8:g.67011104G>C	NCBI36
NG_008969.1:g.9024G>C , LRG_460:g.9024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.128G>C
ENST00000528641.7:c.151G>C	ENSP00000434982.3:p.Asp51His
ENST00000529797.2:n.81G>C
ENST00000682324.1:c.151G>C	ENSP00000508017.1:p.Asp51His
ENST00000682659.1:c.100-2981G>C	ENSP00000507351.1:n.100-2981G>C
ENST00000682699.1:c.151G>C	ENSP00000507935.1:p.Asp51His
ENST00000683237.1:c.151G>C	ENSP00000507343.1:p.Asp51His
ENST00000683856.1:c.-27G>C	ENSP00000507979.1:n.-27G>C
ENST00000684006.1:c.151G>C	ENSP00000507269.1:p.Asp51His
ENST00000684657.1:c.100-2210G>C	ENSP00000507961.1:n.100-2210G>C
ENST00000279146.8:c.151G>C MANE Select	ENSP00000279146.3:p.Asp51His
ENST00000279146.7:c.151G>C	ENSP00000279146.3:p.Asp51His
ENST00000528641.6:c.151G>C	ENSP00000434982.2:p.Asp51His
ENST00000529797.1:n.261G>C
NM_001302959.1:c.-27G>C	NP_001289888.1:n.-27G>C
NM_001302960.1:c.151G>C	NP_001289889.1:p.Asp51His
NM_003977.3:c.151G>C	NP_003968.3:p.Asp51His
XM_024448761.1:c.151G>C	XP_024304529.1:p.Asp51His
NM_003977.4:c.151G>C MANE Select	NP_003968.3:p.Asp51His
NM_001302960.2:c.151G>C	NP_001289889.1:p.Asp51His
NM_001302959.2:c.-27G>C	NP_001289888.1:n.-27G>C