Canonical Allele Identifier: CA381549427

Gene: AIP

Linked Data

• ClinVar Variation Id: 824229
• ClinVar RCV Id: RCV001021172 ; RCV001102836 ; RCV001861009
• dbSNP Id: rs1591044815
• MyVariant Identifiers: chr11:g.67256837A>G (hg19) ; chr11:g.67489366A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67489366A>G , CM000673.2:g.67489366A>G	GRCh38
NC_000011.9:g.67256837A>G , CM000673.1:g.67256837A>G	GRCh37
NC_000011.8:g.67013413A>G	NCBI36
NG_008969.1:g.11333A>G , LRG_460:g.11333A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000525341.2:c.356A>G
ENST00000528641.7:c.280-672A>G	ENSP00000434982.3:n.280-672A>G
ENST00000529797.2:n.309A>G
ENST00000682324.1:c.379A>G	ENSP00000508017.1:p.Met127Val
ENST00000682659.1:c.100-672A>G	ENSP00000507351.1:n.100-672A>G
ENST00000682699.1:c.379A>G	ENSP00000507935.1:p.Met127Val
ENST00000683237.1:c.379A>G	ENSP00000507343.1:p.Met127Val
ENST00000683856.1:c.202A>G	ENSP00000507979.1:p.Met68Val
ENST00000684006.1:c.379A>G	ENSP00000507269.1:p.Met127Val
ENST00000684657.1:c.199A>G	ENSP00000507961.1:p.Met67Val
ENST00000279146.8:c.379A>G MANE Select	ENSP00000279146.3:p.Met127Val
ENST00000279146.7:c.379A>G	ENSP00000279146.3:p.Met127Val
ENST00000525341.1:c.31A>G	ENSP00000476993.1:p.Met11Val
ENST00000528641.6:c.280-672A>G	ENSP00000434982.2:n.280-672A>G
ENST00000529797.1:n.489A>G
NM_001302959.1:c.202A>G	NP_001289888.1:p.Met68Val
NM_001302960.1:c.379A>G	NP_001289889.1:p.Met127Val
NM_003977.3:c.379A>G	NP_003968.3:p.Met127Val
XM_024448761.1:c.379A>G	XP_024304529.1:p.Met127Val
NM_003977.4:c.379A>G MANE Select	NP_003968.3:p.Met127Val
NM_001302960.2:c.379A>G	NP_001289889.1:p.Met127Val
NM_001302959.2:c.202A>G	NP_001289888.1:p.Met68Val