Canonical Allele Identifier: CA2573147625
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 1654003
ClinVar RCV Id: RCV002163630
dbSNP Id: rs2134251349

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67487193T>G , CM000673.2:g.67487193T>G GRCh38
NC_000011.9:g.67254664T>G , CM000673.1:g.67254664T>G GRCh37
NC_000011.8:g.67011240T>G NCBI36
NG_008969.1:g.9160T>G , LRG_460:g.9160T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525341.2:c.256+8T>G
ENST00000528641.7:c.279+8T>G ENSP00000434982.3:n.279+8T>G
ENST00000529797.2:n.209+8T>G
ENST00000682324.1:c.279+8T>G ENSP00000508017.1:n.279+8T>G
ENST00000682659.1:c.100-2845T>G ENSP00000507351.1:n.100-2845T>G
ENST00000682699.1:c.279+8T>G ENSP00000507935.1:n.279+8T>G
ENST00000683237.1:c.279+8T>G ENSP00000507343.1:n.279+8T>G
ENST00000683856.1:c.102+8T>G ENSP00000507979.1:n.102+8T>G
ENST00000684006.1:c.279+8T>G ENSP00000507269.1:n.279+8T>G
ENST00000684657.1:c.100-2074T>G ENSP00000507961.1:n.100-2074T>G
ENST00000279146.8:c.279+8T>G MANE Select ENSP00000279146.3:n.279+8T>G
ENST00000279146.7:c.279+8T>G ENSP00000279146.3:n.279+8T>G
ENST00000528641.6:c.279+8T>G ENSP00000434982.2:n.279+8T>G
ENST00000529797.1:n.389+8T>G
NM_001302959.1:c.102+8T>G NP_001289888.1:n.102+8T>G
NM_001302960.1:c.279+8T>G NP_001289889.1:n.279+8T>G
NM_003977.3:c.279+8T>G NP_003968.3:n.279+8T>G
XM_024448761.1:c.279+8T>G XP_024304529.1:n.279+8T>G
NM_003977.4:c.279+8T>G MANE Select NP_003968.3:n.279+8T>G
NM_001302960.2:c.279+8T>G NP_001289889.1:n.279+8T>G
NM_001302959.2:c.102+8T>G NP_001289888.1:n.102+8T>G