Canonical Allele Identifier: CA10639897
Gene: AIP HGNC NCBI

Linked Data

ClinVar Variation Id: 305722
ClinVar RCV Id: RCV000300849
dbSNP Id: rs377710724

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.67483157G>C , CM000673.2:g.67483157G>C GRCh38
NC_000011.9:g.67250628G>C , CM000673.1:g.67250628G>C GRCh37
NC_000011.8:g.67007204G>C NCBI36
NG_008969.1:g.5124G>C , LRG_460:g.5124G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000528641.7:c.-2G>C ENSP00000434982.3:n.-2G>C
ENST00000682324.1:c.-2G>C ENSP00000508017.1:n.-2G>C
ENST00000682659.1:c.-2G>C ENSP00000507351.1:n.-2G>C
ENST00000682699.1:c.-2G>C ENSP00000507935.1:n.-2G>C
ENST00000683237.1:c.-2G>C ENSP00000507343.1:n.-2G>C
ENST00000684006.1:c.-2G>C ENSP00000507269.1:n.-2G>C
ENST00000684657.1:c.-2G>C ENSP00000507961.1:n.-2G>C
ENST00000279146.8:c.-2G>C MANE Select ENSP00000279146.3:n.-2G>C
ENST00000279146.7:c.-2G>C ENSP00000279146.3:n.-2G>C
ENST00000528641.6:c.-2G>C ENSP00000434982.2:n.-2G>C
ENST00000529797.1:n.109G>C
NM_001302960.1:c.-2G>C NP_001289889.1:n.-2G>C
NM_003977.3:c.-2G>C NP_003968.3:n.-2G>C
XM_024448761.1:c.-2G>C XP_024304529.1:n.-2G>C
NM_003977.4:c.-2G>C MANE Select NP_003968.3:n.-2G>C
NM_001302960.2:c.-2G>C NP_001289889.1:n.-2G>C