Canonical Allele Identifier: CA381770781

Gene: ARAP1

Linked Data

• dbSNP Id: rs1307053592
• gnomAD v4: 11-72712541-G-A
• MyVariant Identifiers: chr11:g.72423586G>A (hg19) ; chr11:g.72712541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712541G>A , CM000673.2:g.72712541G>A	GRCh38
NC_000011.9:g.72423586G>A , CM000673.1:g.72423586G>A	GRCh37
NC_000011.8:g.72101234G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.775C>T MANE Select	ENSP00000377233.3:p.Arg259Trp
ENST00000334211.12:c.40C>T	ENSP00000335506.8:p.Arg14Trp
ENST00000359373.9:c.775C>T	ENSP00000352332.5:p.Arg259Trp
ENST00000393605.7:c.55C>T	ENSP00000377230.3:p.Arg19Trp
ENST00000393609.7:c.775C>T	ENSP00000377233.3:p.Arg259Trp
ENST00000426523.5:c.40C>T	ENSP00000392264.1:p.Arg14Trp
ENST00000429686.5:c.40C>T	ENSP00000403127.1:p.Arg14Trp
ENST00000465814.5:n.1112C>T
NM_001040118.2:c.775C>T	NP_001035207.1:p.Arg259Trp
NM_001135190.1:c.40C>T	NP_001128662.1:p.Arg14Trp
NM_015242.4:c.40C>T	NP_056057.2:p.Arg14Trp
NM_001369489.1:c.40C>T	NP_001356418.1:p.Arg14Trp
NR_161388.1:n.757C>T
NM_001040118.3:c.775C>T MANE Select	NP_001035207.1:p.Arg259Trp
NM_001135190.2:c.40C>T	NP_001128662.1:p.Arg14Trp
NM_015242.5:c.40C>T	NP_056057.2:p.Arg14Trp