Canonical Allele Identifier: CA381770800

Gene: ARAP1

Linked Data

• gnomAD v4: 11-72712547-C-G
• MyVariant Identifiers: chr11:g.72423592C>G (hg19) ; chr11:g.72712547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72712547C>G , CM000673.2:g.72712547C>G	GRCh38
NC_000011.9:g.72423592C>G , CM000673.1:g.72423592C>G	GRCh37
NC_000011.8:g.72101240C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393609.8:c.769G>C MANE Select	ENSP00000377233.3:p.Val257Leu
ENST00000334211.12:c.34G>C	ENSP00000335506.8:p.Val12Leu
ENST00000359373.9:c.769G>C	ENSP00000352332.5:p.Val257Leu
ENST00000393605.7:c.49G>C	ENSP00000377230.3:p.Val17Leu
ENST00000393609.7:c.769G>C	ENSP00000377233.3:p.Val257Leu
ENST00000426523.5:c.34G>C	ENSP00000392264.1:p.Val12Leu
ENST00000429686.5:c.34G>C	ENSP00000403127.1:p.Val12Leu
ENST00000465814.5:n.1106G>C
NM_001040118.2:c.769G>C	NP_001035207.1:p.Val257Leu
NM_001135190.1:c.34G>C	NP_001128662.1:p.Val12Leu
NM_015242.4:c.34G>C	NP_056057.2:p.Val12Leu
NM_001369489.1:c.34G>C	NP_001356418.1:p.Val12Leu
NR_161388.1:n.751G>C
NM_001040118.3:c.769G>C MANE Select	NP_001035207.1:p.Val257Leu
NM_001135190.2:c.34G>C	NP_001128662.1:p.Val12Leu
NM_015242.5:c.34G>C	NP_056057.2:p.Val12Leu