Canonical Allele Identifier: CA381546718

Gene: AIP

Linked Data

• ClinVar Variation Id: 1777879
• ClinVar RCV Id: RCV002406010 ; RCV003100788
• gnomAD v4: 11-67487073-G-C
• MyVariant Identifiers: chr11:g.67254544G>C (hg19) ; chr11:g.67487073G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67487073G>C , CM000673.2:g.67487073G>C	GRCh38
NC_000011.9:g.67254544G>C , CM000673.1:g.67254544G>C	GRCh37
NC_000011.8:g.67011120G>C	NCBI36
NG_008969.1:g.9040G>C , LRG_460:g.9040G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.144G>C
ENST00000528641.7:c.167G>C	ENSP00000434982.3:p.Arg56Pro
ENST00000529797.2:n.97G>C
ENST00000682324.1:c.167G>C	ENSP00000508017.1:p.Arg56Pro
ENST00000682659.1:c.100-2965G>C	ENSP00000507351.1:n.100-2965G>C
ENST00000682699.1:c.167G>C	ENSP00000507935.1:p.Arg56Pro
ENST00000683237.1:c.167G>C	ENSP00000507343.1:p.Arg56Pro
ENST00000683856.1:c.-11G>C	ENSP00000507979.1:n.-11G>C
ENST00000684006.1:c.167G>C	ENSP00000507269.1:p.Arg56Pro
ENST00000684657.1:c.100-2194G>C	ENSP00000507961.1:n.100-2194G>C
ENST00000279146.8:c.167G>C MANE Select	ENSP00000279146.3:p.Arg56Pro
ENST00000279146.7:c.167G>C	ENSP00000279146.3:p.Arg56Pro
ENST00000528641.6:c.167G>C	ENSP00000434982.2:p.Arg56Pro
ENST00000529797.1:n.277G>C
NM_001302959.1:c.-11G>C	NP_001289888.1:n.-11G>C
NM_001302960.1:c.167G>C	NP_001289889.1:p.Arg56Pro
NM_003977.3:c.167G>C	NP_003968.3:p.Arg56Pro
XM_024448761.1:c.167G>C	XP_024304529.1:p.Arg56Pro
NM_003977.4:c.167G>C MANE Select	NP_003968.3:p.Arg56Pro
NM_001302960.2:c.167G>C	NP_001289889.1:p.Arg56Pro
NM_001302959.2:c.-11G>C	NP_001289888.1:n.-11G>C