Canonical Allele Identifier: CA381770463

Gene: ARAP1

Linked Data

• dbSNP Id: rs1171817346
• gnomAD v2: 11-72423496-C-T
• gnomAD v4: 11-72712451-C-T
• MyVariant Identifiers: chr11:g.72423496C>T (hg19) ; chr11:g.72712451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712451C>T , CM000673.2:g.72712451C>T	GRCh38
NC_000011.9:g.72423496C>T , CM000673.1:g.72423496C>T	GRCh37
NC_000011.8:g.72101144C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.865G>A MANE Select	ENSP00000377233.3:p.Glu289Lys
ENST00000334211.12:c.130G>A	ENSP00000335506.8:p.Glu44Lys
ENST00000359373.9:c.865G>A	ENSP00000352332.5:p.Glu289Lys
ENST00000393605.7:c.145G>A	ENSP00000377230.3:p.Glu49Lys
ENST00000393609.7:c.865G>A	ENSP00000377233.3:p.Glu289Lys
ENST00000426523.5:c.130G>A	ENSP00000392264.1:p.Glu44Lys
ENST00000429686.5:c.130G>A	ENSP00000403127.1:p.Glu44Lys
ENST00000465814.5:n.1202G>A
NM_001040118.2:c.865G>A	NP_001035207.1:p.Glu289Lys
NM_001135190.1:c.130G>A	NP_001128662.1:p.Glu44Lys
NM_015242.4:c.130G>A	NP_056057.2:p.Glu44Lys
NM_001369489.1:c.130G>A	NP_001356418.1:p.Glu44Lys
NR_161388.1:n.847G>A
NM_001040118.3:c.865G>A MANE Select	NP_001035207.1:p.Glu289Lys
NM_001135190.2:c.130G>A	NP_001128662.1:p.Glu44Lys
NM_015242.5:c.130G>A	NP_056057.2:p.Glu44Lys