Canonical Allele Identifier: CA381545656

Gene: AIP

Linked Data

• ClinVar Variation Id: 1020574
• ClinVar RCV Id: RCV001320168
• dbSNP Id: rs1865725901
• MyVariant Identifiers: chr11:g.67250639A>T (hg19) ; chr11:g.67483168A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67483168A>T , CM000673.2:g.67483168A>T	GRCh38
NC_000011.9:g.67250639A>T , CM000673.1:g.67250639A>T	GRCh37
NC_000011.8:g.67007215A>T	NCBI36
NG_008969.1:g.5135A>T , LRG_460:g.5135A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528641.7:c.10A>T	ENSP00000434982.3:p.Ile4Phe
ENST00000682324.1:c.10A>T	ENSP00000508017.1:p.Ile4Phe
ENST00000682659.1:c.10A>T	ENSP00000507351.1:p.Ile4Phe
ENST00000682699.1:c.10A>T	ENSP00000507935.1:p.Ile4Phe
ENST00000683237.1:c.10A>T	ENSP00000507343.1:p.Ile4Phe
ENST00000684006.1:c.10A>T	ENSP00000507269.1:p.Ile4Phe
ENST00000684657.1:c.10A>T	ENSP00000507961.1:p.Ile4Phe
ENST00000279146.8:c.10A>T MANE Select	ENSP00000279146.3:p.Ile4Phe
ENST00000279146.7:c.10A>T	ENSP00000279146.3:p.Ile4Phe
ENST00000528641.6:c.10A>T	ENSP00000434982.2:p.Ile4Phe
ENST00000529797.1:n.120A>T
NM_001302960.1:c.10A>T	NP_001289889.1:p.Ile4Phe
NM_003977.3:c.10A>T	NP_003968.3:p.Ile4Phe
XM_024448761.1:c.10A>T	XP_024304529.1:p.Ile4Phe
NM_003977.4:c.10A>T MANE Select	NP_003968.3:p.Ile4Phe
NM_001302960.2:c.10A>T	NP_001289889.1:p.Ile4Phe