Canonical Allele Identifier: CA224453087

Gene: ARAP1

Linked Data

• dbSNP Id: rs989192651
• gnomAD v4: 11-72722006-T-G
• MyVariant Identifiers: chr11:g.72433051T>G (hg19) ; chr11:g.72722006T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72722006T>G , CM000673.2:g.72722006T>G	GRCh38
NC_000011.9:g.72433051T>G , CM000673.1:g.72433051T>G	GRCh37
NC_000011.8:g.72110699T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000393609.8:c.509+4614A>C MANE Select	ENSP00000377233.3:n.509+4614A>C
ENST00000334211.12:c.-383A>C	ENSP00000335506.8:n.-383A>C
ENST00000359373.9:c.509+4614A>C	ENSP00000352332.5:n.509+4614A>C
ENST00000393609.7:c.509+4614A>C	ENSP00000377233.3:n.509+4614A>C
ENST00000426523.5:c.-383A>C	ENSP00000392264.1:n.-383A>C
ENST00000429686.5:c.-383A>C	ENSP00000403127.1:n.-383A>C
ENST00000465814.5:n.83A>C
NM_001040118.2:c.509+4614A>C	NP_001035207.1:n.509+4614A>C
NM_001135190.1:c.-383A>C	NP_001128662.1:n.-383A>C
NM_015242.4:c.-383A>C	NP_056057.2:n.-383A>C
NM_001369489.1:c.-383A>C	NP_001356418.1:n.-383A>C
NR_161388.1:n.335A>C
NM_001040118.3:c.509+4614A>C MANE Select	NP_001035207.1:n.509+4614A>C
NM_001135190.2:c.-383A>C	NP_001128662.1:n.-383A>C
NM_015242.5:c.-383A>C	NP_056057.2:n.-383A>C