Canonical Allele Identifier: CA381770459

Gene: ARAP1

Linked Data

• gnomAD v4: 11-72712450-T-C
• MyVariant Identifiers: chr11:g.72423495T>C (hg19) ; chr11:g.72712450T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712450T>C , CM000673.2:g.72712450T>C	GRCh38
NC_000011.9:g.72423495T>C , CM000673.1:g.72423495T>C	GRCh37
NC_000011.8:g.72101143T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.866A>G MANE Select	ENSP00000377233.3:p.Glu289Gly
ENST00000334211.12:c.131A>G	ENSP00000335506.8:p.Glu44Gly
ENST00000359373.9:c.866A>G	ENSP00000352332.5:p.Glu289Gly
ENST00000393605.7:c.146A>G	ENSP00000377230.3:p.Glu49Gly
ENST00000393609.7:c.866A>G	ENSP00000377233.3:p.Glu289Gly
ENST00000426523.5:c.131A>G	ENSP00000392264.1:p.Glu44Gly
ENST00000429686.5:c.131A>G	ENSP00000403127.1:p.Glu44Gly
ENST00000465814.5:n.1203A>G
NM_001040118.2:c.866A>G	NP_001035207.1:p.Glu289Gly
NM_001135190.1:c.131A>G	NP_001128662.1:p.Glu44Gly
NM_015242.4:c.131A>G	NP_056057.2:p.Glu44Gly
NM_001369489.1:c.131A>G	NP_001356418.1:p.Glu44Gly
NR_161388.1:n.848A>G
NM_001040118.3:c.866A>G MANE Select	NP_001035207.1:p.Glu289Gly
NM_001135190.2:c.131A>G	NP_001128662.1:p.Glu44Gly
NM_015242.5:c.131A>G	NP_056057.2:p.Glu44Gly