Canonical Allele Identifier: CA2573147618
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1451011
ClinVar RCV Id: RCV001993057
dbSNP Id: rs2134256337

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67490778T>G , CM000673.2:g.67490778T>G GRCh38
NC_000011.9:g.67258249T>G , CM000673.1:g.67258249T>G GRCh37
NC_000011.8:g.67014825T>G NCBI36
NG_008969.1:g.12745T>G , LRG_460:g.12745T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525341.2:c.1085T>G
ENST00000528641.7:c.599-10T>G ENSP00000434982.3:n.599-10T>G
ENST00000529797.2:n.1620T>G
ENST00000682324.1:c.469-219T>G ENSP00000508017.1:n.469-219T>G
ENST00000682659.1:c.419-10T>G ENSP00000507351.1:n.419-10T>G
ENST00000682699.1:c.788-10T>G ENSP00000507935.1:n.788-10T>G
ENST00000683237.1:c.780-10T>G ENSP00000507343.1:n.780-10T>G
ENST00000683856.1:c.611-10T>G ENSP00000507979.1:n.611-10T>G
ENST00000684006.1:c.788-21T>G ENSP00000507269.1:n.788-21T>G
ENST00000684657.1:c.608-10T>G ENSP00000507961.1:n.608-10T>G
ENST00000279146.8:c.788-10T>G MANE Select ENSP00000279146.3:n.788-10T>G
ENST00000279146.7:c.788-10T>G ENSP00000279146.3:n.788-10T>G
ENST00000528641.6:c.599-10T>G ENSP00000434982.2:n.599-10T>G
NM_001302959.1:c.611-10T>G NP_001289888.1:n.611-10T>G
NM_001302960.1:c.780-10T>G NP_001289889.1:n.780-10T>G
NM_003977.3:c.788-10T>G NP_003968.3:n.788-10T>G
XM_024448761.1:c.788-10T>G XP_024304529.1:n.788-10T>G
NM_003977.4:c.788-10T>G MANE Select NP_003968.3:n.788-10T>G
NM_001302960.2:c.780-10T>G NP_001289889.1:n.780-10T>G
NM_001302959.2:c.611-10T>G NP_001289888.1:n.611-10T>G