Canonical Allele Identifier: CA6174130

Gene: ARAP1

Linked Data

• ClinVar Variation Id: 3128220
• ClinVar RCV Id: RCV004420123
• dbSNP Id: rs536123303
• ExAC: 11:72423502 C / T
• gnomAD v2: 11-72423502-C-T
• gnomAD v3: 11-72712457-C-T
• gnomAD v4: 11-72712457-C-T
• MyVariant Identifiers: chr11:g.72423502C>T (hg19) ; chr11:g.72712457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712457C>T , CM000673.2:g.72712457C>T	GRCh38
NC_000011.9:g.72423502C>T , CM000673.1:g.72423502C>T	GRCh37
NC_000011.8:g.72101150C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.859G>A MANE Select	ENSP00000377233.3:p.Ala287Thr
ENST00000334211.12:c.124G>A	ENSP00000335506.8:p.Ala42Thr
ENST00000359373.9:c.859G>A	ENSP00000352332.5:p.Ala287Thr
ENST00000393605.7:c.139G>A	ENSP00000377230.3:p.Ala47Thr
ENST00000393609.7:c.859G>A	ENSP00000377233.3:p.Ala287Thr
ENST00000426523.5:c.124G>A	ENSP00000392264.1:p.Ala42Thr
ENST00000429686.5:c.124G>A	ENSP00000403127.1:p.Ala42Thr
ENST00000465814.5:n.1196G>A
NM_001040118.2:c.859G>A	NP_001035207.1:p.Ala287Thr
NM_001135190.1:c.124G>A	NP_001128662.1:p.Ala42Thr
NM_015242.4:c.124G>A	NP_056057.2:p.Ala42Thr
NM_001369489.1:c.124G>A	NP_001356418.1:p.Ala42Thr
NR_161388.1:n.841G>A
NM_001040118.3:c.859G>A MANE Select	NP_001035207.1:p.Ala287Thr
NM_001135190.2:c.124G>A	NP_001128662.1:p.Ala42Thr
NM_015242.5:c.124G>A	NP_056057.2:p.Ala42Thr