Canonical Allele Identifier: CA475638141

Gene: ARAP1

Linked Data

• dbSNP Id: rs1205122570
• gnomAD v2: 11-72423500-G-A
• gnomAD v3: 11-72712455-G-A
• gnomAD v4: 11-72712455-G-A
• COSMIC: COSM3870170 ; COSM3870171
• MyVariant Identifiers: chr11:g.72423500G>A (hg19) ; chr11:g.72712455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712455G>A , CM000673.2:g.72712455G>A	GRCh38
NC_000011.9:g.72423500G>A , CM000673.1:g.72423500G>A	GRCh37
NC_000011.8:g.72101148G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.861C>T MANE Select	ENSP00000377233.3:p.Ala287=
ENST00000334211.12:c.126C>T	ENSP00000335506.8:p.Ala42=
ENST00000359373.9:c.861C>T	ENSP00000352332.5:p.Ala287=
ENST00000393605.7:c.141C>T	ENSP00000377230.3:p.Ala47=
ENST00000393609.7:c.861C>T	ENSP00000377233.3:p.Ala287=
ENST00000426523.5:c.126C>T	ENSP00000392264.1:p.Ala42=
ENST00000429686.5:c.126C>T	ENSP00000403127.1:p.Ala42=
ENST00000465814.5:n.1198C>T
NM_001040118.2:c.861C>T	NP_001035207.1:p.Ala287=
NM_001135190.1:c.126C>T	NP_001128662.1:p.Ala42=
NM_015242.4:c.126C>T	NP_056057.2:p.Ala42=
NM_001369489.1:c.126C>T	NP_001356418.1:p.Ala42=
NR_161388.1:n.843C>T
NM_001040118.3:c.861C>T MANE Select	NP_001035207.1:p.Ala287=
NM_001135190.2:c.126C>T	NP_001128662.1:p.Ala42=
NM_015242.5:c.126C>T	NP_056057.2:p.Ala42=