Canonical Allele Identifier: CA381551162

Gene: AIP

Linked Data

• ClinVar Variation Id: 2990588
• ClinVar RCV Id: RCV003847267
• MyVariant Identifiers: chr11:g.67257650G>C (hg19) ; chr11:g.67490179G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490179G>C , CM000673.2:g.67490179G>C	GRCh38
NC_000011.9:g.67257650G>C , CM000673.1:g.67257650G>C	GRCh37
NC_000011.8:g.67014226G>C	NCBI36
NG_008969.1:g.12146G>C , LRG_460:g.12146G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.587G>C
ENST00000528641.7:c.421G>C	ENSP00000434982.3:p.Asp141His
ENST00000529797.2:n.1122G>C
ENST00000682324.1:c.468+724G>C	ENSP00000508017.1:n.468+724G>C
ENST00000682659.1:c.241G>C	ENSP00000507351.1:p.Asp81His
ENST00000682699.1:c.610G>C	ENSP00000507935.1:p.Asp204His
ENST00000683237.1:c.610G>C	ENSP00000507343.1:p.Asp204His
ENST00000683856.1:c.433G>C	ENSP00000507979.1:p.Asp145His
ENST00000684006.1:c.610G>C	ENSP00000507269.1:p.Asp204His
ENST00000684657.1:c.430G>C	ENSP00000507961.1:p.Asp144His
ENST00000279146.8:c.610G>C MANE Select	ENSP00000279146.3:p.Asp204His
ENST00000279146.7:c.610G>C	ENSP00000279146.3:p.Asp204His
ENST00000525341.1:c.262G>C	ENSP00000476993.1:p.Asp88His
ENST00000528641.6:c.421G>C	ENSP00000434982.2:p.Asp141His
NM_001302959.1:c.433G>C	NP_001289888.1:p.Asp145His
NM_001302960.1:c.610G>C	NP_001289889.1:p.Asp204His
NM_003977.3:c.610G>C	NP_003968.3:p.Asp204His
XM_024448761.1:c.610G>C	XP_024304529.1:p.Asp204His
NM_003977.4:c.610G>C MANE Select	NP_003968.3:p.Asp204His
NM_001302960.2:c.610G>C	NP_001289889.1:p.Asp204His
NM_001302959.2:c.433G>C	NP_001289888.1:p.Asp145His