Canonical Allele Identifier: CA381770505

Gene: ARAP1

Linked Data

• gnomAD v4: 11-72712467-C-A
• MyVariant Identifiers: chr11:g.72423512C>A (hg19) ; chr11:g.72712467C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712467C>A , CM000673.2:g.72712467C>A	GRCh38
NC_000011.9:g.72423512C>A , CM000673.1:g.72423512C>A	GRCh37
NC_000011.8:g.72101160C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.849G>T MANE Select	ENSP00000377233.3:p.Glu283Asp
ENST00000334211.12:c.114G>T	ENSP00000335506.8:p.Glu38Asp
ENST00000359373.9:c.849G>T	ENSP00000352332.5:p.Glu283Asp
ENST00000393605.7:c.129G>T	ENSP00000377230.3:p.Glu43Asp
ENST00000393609.7:c.849G>T	ENSP00000377233.3:p.Glu283Asp
ENST00000426523.5:c.114G>T	ENSP00000392264.1:p.Glu38Asp
ENST00000429686.5:c.114G>T	ENSP00000403127.1:p.Glu38Asp
ENST00000465814.5:n.1186G>T
NM_001040118.2:c.849G>T	NP_001035207.1:p.Glu283Asp
NM_001135190.1:c.114G>T	NP_001128662.1:p.Glu38Asp
NM_015242.4:c.114G>T	NP_056057.2:p.Glu38Asp
NM_001369489.1:c.114G>T	NP_001356418.1:p.Glu38Asp
NR_161388.1:n.831G>T
NM_001040118.3:c.849G>T MANE Select	NP_001035207.1:p.Glu283Asp
NM_001135190.2:c.114G>T	NP_001128662.1:p.Glu38Asp
NM_015242.5:c.114G>T	NP_056057.2:p.Glu38Asp