Canonical Allele Identifier: CA309194953
Gene: KPTN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.47480743T>G , CM000681.2:g.47480743T>G GRCh38
NC_000019.9:g.47984000T>G , CM000681.1:g.47984000T>G GRCh37
NC_000019.8:g.52675812T>G NCBI36
NG_034097.1:g.8522A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338134.8:c.599+17A>C MANE Select ENSP00000337850.2:n.599+17A>C
ENST00000338134.7:c.599+17A>C ENSP00000337850.2:n.599+17A>C
ENST00000594139.5:n.384A>C
ENST00000594208.5:c.*233+21A>C ENSP00000470364.1:n.*233+21A>C
ENST00000595484.5:n.587A>C
ENST00000595554.1:c.431+17A>C ENSP00000469446.1:n.431+17A>C
ENST00000600271.5:c.-122+17A>C ENSP00000472291.1:n.-122+17A>C
ENST00000602193.5:n.568A>C
NM_001291296.1:c.431+17A>C NP_001278225.1:n.431+17A>C
NM_007059.3:c.599+17A>C NP_008990.2:n.599+17A>C
NR_111923.1:n.790+21A>C
XM_011526398.1:c.785+17A>C XP_011524700.1:n.785+17A>C
XM_011526399.1:c.785+17A>C XP_011524701.1:n.785+17A>C
XM_011526400.1:c.785+17A>C XP_011524702.1:n.785+17A>C
XM_011526401.1:c.617+17A>C XP_011524703.1:n.617+17A>C
XM_017026226.1:c.851+17A>C XP_016881715.1:n.851+17A>C
XM_017026227.1:c.851+17A>C XP_016881716.1:n.851+17A>C
XM_017026228.1:c.851+17A>C XP_016881717.1:n.851+17A>C
XM_024451333.1:c.599+17A>C XP_024307101.1:n.599+17A>C
XR_001753597.1:n.1053+17A>C
NM_007059.4:c.599+17A>C MANE Select NP_008990.2:n.599+17A>C
NM_001291296.2:c.431+17A>C NP_001278225.1:n.431+17A>C
NR_111923.2:n.745+21A>C