Canonical Allele Identifier: CA381770468

Gene: ARAP1

Linked Data

• MyVariant Identifiers: chr11:g.72423499A>G (hg19) ; chr11:g.72712454A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712454A>G , CM000673.2:g.72712454A>G	GRCh38
NC_000011.9:g.72423499A>G , CM000673.1:g.72423499A>G	GRCh37
NC_000011.8:g.72101147A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.862T>C MANE Select	ENSP00000377233.3:p.Tyr288His
ENST00000334211.12:c.127T>C	ENSP00000335506.8:p.Tyr43His
ENST00000359373.9:c.862T>C	ENSP00000352332.5:p.Tyr288His
ENST00000393605.7:c.142T>C	ENSP00000377230.3:p.Tyr48His
ENST00000393609.7:c.862T>C	ENSP00000377233.3:p.Tyr288His
ENST00000426523.5:c.127T>C	ENSP00000392264.1:p.Tyr43His
ENST00000429686.5:c.127T>C	ENSP00000403127.1:p.Tyr43His
ENST00000465814.5:n.1199T>C
NM_001040118.2:c.862T>C	NP_001035207.1:p.Tyr288His
NM_001135190.1:c.127T>C	NP_001128662.1:p.Tyr43His
NM_015242.4:c.127T>C	NP_056057.2:p.Tyr43His
NM_001369489.1:c.127T>C	NP_001356418.1:p.Tyr43His
NR_161388.1:n.844T>C
NM_001040118.3:c.862T>C MANE Select	NP_001035207.1:p.Tyr288His
NM_001135190.2:c.127T>C	NP_001128662.1:p.Tyr43His
NM_015242.5:c.127T>C	NP_056057.2:p.Tyr43His