Canonical Allele Identifier: CA224453077

Gene: ARAP1

Linked Data

• dbSNP Id: rs1030893813
• gnomAD v2: 11-72432988-C-T
• gnomAD v3: 11-72721943-C-T
• gnomAD v4: 11-72721943-C-T
• MyVariant Identifiers: chr11:g.72432988C>T (hg19) ; chr11:g.72721943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72721943C>T , CM000673.2:g.72721943C>T	GRCh38
NC_000011.9:g.72432988C>T , CM000673.1:g.72432988C>T	GRCh37
NC_000011.8:g.72110636C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.509+4677G>A MANE Select	ENSP00000377233.3:n.509+4677G>A
ENST00000334211.12:c.-320G>A	ENSP00000335506.8:n.-320G>A
ENST00000359373.9:c.509+4677G>A	ENSP00000352332.5:n.509+4677G>A
ENST00000393609.7:c.509+4677G>A	ENSP00000377233.3:n.509+4677G>A
ENST00000426523.5:c.-320G>A	ENSP00000392264.1:n.-320G>A
ENST00000429686.5:c.-320G>A	ENSP00000403127.1:n.-320G>A
ENST00000465814.5:n.146G>A
NM_001040118.2:c.509+4677G>A	NP_001035207.1:n.509+4677G>A
NM_001135190.1:c.-320G>A	NP_001128662.1:n.-320G>A
NM_015242.4:c.-320G>A	NP_056057.2:n.-320G>A
NM_001369489.1:c.-320G>A	NP_001356418.1:n.-320G>A
NR_161388.1:n.398G>A
NM_001040118.3:c.509+4677G>A MANE Select	NP_001035207.1:n.509+4677G>A
NM_001135190.2:c.-320G>A	NP_001128662.1:n.-320G>A
NM_015242.5:c.-320G>A	NP_056057.2:n.-320G>A