Canonical Allele Identifier: CA381770458
Gene: ARAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72712450T>G , CM000673.2:g.72712450T>G GRCh38
NC_000011.9:g.72423495T>G , CM000673.1:g.72423495T>G GRCh37
NC_000011.8:g.72101143T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393609.8:c.866A>C MANE Select ENSP00000377233.3:p.Glu289Ala
ENST00000334211.12:c.131A>C ENSP00000335506.8:p.Glu44Ala
ENST00000359373.9:c.866A>C ENSP00000352332.5:p.Glu289Ala
ENST00000393605.7:c.146A>C ENSP00000377230.3:p.Glu49Ala
ENST00000393609.7:c.866A>C ENSP00000377233.3:p.Glu289Ala
ENST00000426523.5:c.131A>C ENSP00000392264.1:p.Glu44Ala
ENST00000429686.5:c.131A>C ENSP00000403127.1:p.Glu44Ala
ENST00000465814.5:n.1203A>C
NM_001040118.2:c.866A>C NP_001035207.1:p.Glu289Ala
NM_001135190.1:c.131A>C NP_001128662.1:p.Glu44Ala
NM_015242.4:c.131A>C NP_056057.2:p.Glu44Ala
NM_001369489.1:c.131A>C NP_001356418.1:p.Glu44Ala
NR_161388.1:n.848A>C
NM_001040118.3:c.866A>C MANE Select NP_001035207.1:p.Glu289Ala
NM_001135190.2:c.131A>C NP_001128662.1:p.Glu44Ala
NM_015242.5:c.131A>C NP_056057.2:p.Glu44Ala