Canonical Allele Identifier: CA16606984

Gene: AIP

Linked Data

• ClinVar Variation Id: 388468
• ClinVar RCV Id: RCV000427560 ; RCV002436328
• dbSNP Id: rs1057523115
• gnomAD v4: 11-67483183-C-T
• MyVariant Identifiers: chr11:g.67250654C>T (hg19) ; chr11:g.67483183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67483183C>T , CM000673.2:g.67483183C>T	GRCh38
NC_000011.9:g.67250654C>T , CM000673.1:g.67250654C>T	GRCh37
NC_000011.8:g.67007230C>T	NCBI36
NG_008969.1:g.5150C>T , LRG_460:g.5150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.2C>T
ENST00000528641.7:c.25C>T	ENSP00000434982.3:p.Arg9Trp
ENST00000682324.1:c.25C>T	ENSP00000508017.1:p.Arg9Trp
ENST00000682659.1:c.25C>T	ENSP00000507351.1:p.Arg9Trp
ENST00000682699.1:c.25C>T	ENSP00000507935.1:p.Arg9Trp
ENST00000683237.1:c.25C>T	ENSP00000507343.1:p.Arg9Trp
ENST00000684006.1:c.25C>T	ENSP00000507269.1:p.Arg9Trp
ENST00000684657.1:c.25C>T	ENSP00000507961.1:p.Arg9Trp
ENST00000279146.8:c.25C>T MANE Select	ENSP00000279146.3:p.Arg9Trp
ENST00000279146.7:c.25C>T	ENSP00000279146.3:p.Arg9Trp
ENST00000528641.6:c.25C>T	ENSP00000434982.2:p.Arg9Trp
ENST00000529797.1:n.135C>T
NM_001302960.1:c.25C>T	NP_001289889.1:p.Arg9Trp
NM_003977.3:c.25C>T	NP_003968.3:p.Arg9Trp
XM_024448761.1:c.25C>T	XP_024304529.1:p.Arg9Trp
NM_003977.4:c.25C>T MANE Select	NP_003968.3:p.Arg9Trp
NM_001302960.2:c.25C>T	NP_001289889.1:p.Arg9Trp