Canonical Allele Identifier: CA381770447
Gene: ARAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72712444A>G , CM000673.2:g.72712444A>G GRCh38
NC_000011.9:g.72423489A>G , CM000673.1:g.72423489A>G GRCh37
NC_000011.8:g.72101137A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393609.8:c.872T>C MANE Select ENSP00000377233.3:p.Val291Ala
ENST00000334211.12:c.137T>C ENSP00000335506.8:p.Val46Ala
ENST00000359373.9:c.872T>C ENSP00000352332.5:p.Val291Ala
ENST00000393605.7:c.152T>C ENSP00000377230.3:p.Val51Ala
ENST00000393609.7:c.872T>C ENSP00000377233.3:p.Val291Ala
ENST00000426523.5:c.137T>C ENSP00000392264.1:p.Val46Ala
ENST00000429686.5:c.137T>C ENSP00000403127.1:p.Val46Ala
ENST00000465814.5:n.1209T>C
NM_001040118.2:c.872T>C NP_001035207.1:p.Val291Ala
NM_001135190.1:c.137T>C NP_001128662.1:p.Val46Ala
NM_015242.4:c.137T>C NP_056057.2:p.Val46Ala
NM_001369489.1:c.137T>C NP_001356418.1:p.Val46Ala
NR_161388.1:n.854T>C
NM_001040118.3:c.872T>C MANE Select NP_001035207.1:p.Val291Ala
NM_001135190.2:c.137T>C NP_001128662.1:p.Val46Ala
NM_015242.5:c.137T>C NP_056057.2:p.Val46Ala