Canonical Allele Identifier: CA381770742
Gene: ARAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.72712529C>A , CM000673.2:g.72712529C>A GRCh38
NC_000011.9:g.72423574C>A , CM000673.1:g.72423574C>A GRCh37
NC_000011.8:g.72101222C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393609.8:c.787G>T MANE Select ENSP00000377233.3:p.Val263Leu
ENST00000334211.12:c.52G>T ENSP00000335506.8:p.Val18Leu
ENST00000359373.9:c.787G>T ENSP00000352332.5:p.Val263Leu
ENST00000393605.7:c.67G>T ENSP00000377230.3:p.Val23Leu
ENST00000393609.7:c.787G>T ENSP00000377233.3:p.Val263Leu
ENST00000426523.5:c.52G>T ENSP00000392264.1:p.Val18Leu
ENST00000429686.5:c.52G>T ENSP00000403127.1:p.Val18Leu
ENST00000465814.5:n.1124G>T
NM_001040118.2:c.787G>T NP_001035207.1:p.Val263Leu
NM_001135190.1:c.52G>T NP_001128662.1:p.Val18Leu
NM_015242.4:c.52G>T NP_056057.2:p.Val18Leu
NM_001369489.1:c.52G>T NP_001356418.1:p.Val18Leu
NR_161388.1:n.769G>T
NM_001040118.3:c.787G>T MANE Select NP_001035207.1:p.Val263Leu
NM_001135190.2:c.52G>T NP_001128662.1:p.Val18Leu
NM_015242.5:c.52G>T NP_056057.2:p.Val18Leu