Canonical Allele Identifier: CA381770472
Gene: ARAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72712456G>A , CM000673.2:g.72712456G>A GRCh38
NC_000011.9:g.72423501G>A , CM000673.1:g.72423501G>A GRCh37
NC_000011.8:g.72101149G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393609.8:c.860C>T MANE Select ENSP00000377233.3:p.Ala287Val
ENST00000334211.12:c.125C>T ENSP00000335506.8:p.Ala42Val
ENST00000359373.9:c.860C>T ENSP00000352332.5:p.Ala287Val
ENST00000393605.7:c.140C>T ENSP00000377230.3:p.Ala47Val
ENST00000393609.7:c.860C>T ENSP00000377233.3:p.Ala287Val
ENST00000426523.5:c.125C>T ENSP00000392264.1:p.Ala42Val
ENST00000429686.5:c.125C>T ENSP00000403127.1:p.Ala42Val
ENST00000465814.5:n.1197C>T
NM_001040118.2:c.860C>T NP_001035207.1:p.Ala287Val
NM_001135190.1:c.125C>T NP_001128662.1:p.Ala42Val
NM_015242.4:c.125C>T NP_056057.2:p.Ala42Val
NM_001369489.1:c.125C>T NP_001356418.1:p.Ala42Val
NR_161388.1:n.842C>T
NM_001040118.3:c.860C>T MANE Select NP_001035207.1:p.Ala287Val
NM_001135190.2:c.125C>T NP_001128662.1:p.Ala42Val
NM_015242.5:c.125C>T NP_056057.2:p.Ala42Val