Canonical Allele Identifier: CA14110307
Gene: ARPIN HGNC NCBI
ARPIN-AP3S2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89904714A>G , CM000677.2:g.89904714A>G GRCh38
NC_000015.9:g.90447946A>G , CM000677.1:g.90447946A>G GRCh37
NC_000015.8:g.88248950A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000357484.10:c.302-731T>C (ARPIN) MANE Select ENSP00000350075.5:n.302-731T>C
ENST00000357484.9:c.302-731T>C (ARPIN) ENSP00000350075.5:n.302-731T>C
ENST00000398333.7:c.302-731T>C (ARPIN-AP3S2) ENSP00000381377.3:n.302-731T>C
ENST00000460685.1:c.14-731T>C (ARPIN) ENSP00000453687.1:n.14-731T>C
ENST00000558648.5:c.14-731T>C (ARPIN-AP3S2) ENSP00000453100.1:n.14-731T>C
ENST00000559629.1:c.14-1335T>C (ARPIN-AP3S2) ENSP00000453637.1:n.14-1335T>C
NM_001199058.1:c.302-731T>C (ARPIN-AP3S2) NP_001185987.1:n.302-731T>C
NM_001282380.1:c.14-731T>C (ARPIN) NP_001269309.1:n.14-731T>C
NM_182616.3:c.302-731T>C (ARPIN) NP_872422.1:n.302-731T>C
NM_182616.4:c.302-731T>C (ARPIN) MANE Select NP_872422.1:n.302-731T>C
NM_001199058.2:c.302-731T>C (ARPIN-AP3S2) NP_001185987.1:n.302-731T>C
NM_001282380.2:c.14-731T>C (ARPIN) NP_001269309.1:n.14-731T>C
Search 100 bp 5'
Search 100 bp 3'