Canonical Allele Identifier: CA9540485

Gene: KPTN

Linked Data

• ClinVar Variation Id: 499654
• ClinVar RCV Id: RCV000596073 ; RCV001169836
• dbSNP Id: rs373139784
• ExAC: 19:47986551 C / T
• gnomAD v2: 19-47986551-C-T
• gnomAD v3: 19-47483294-C-T
• gnomAD v4: 19-47483294-C-T
• MyVariant Identifiers: chr19:g.47986551C>T (hg19) ; chr19:g.47483294C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.47483294C>T , CM000681.2:g.47483294C>T	GRCh38
NC_000019.9:g.47986551C>T , CM000681.1:g.47986551C>T	GRCh37
NC_000019.8:g.52678363C>T	NCBI36
NG_034097.1:g.5971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338134.8:c.394+1G>A MANE Select	ENSP00000337850.2:n.394+1G>A
ENST00000338134.7:c.394+1G>A	ENSP00000337850.2:n.394+1G>A
ENST00000594139.5:n.162+1G>A
ENST00000594208.5:c.394+1G>A	ENSP00000470364.1:n.394+1G>A
ENST00000595484.5:n.365+1G>A
ENST00000595554.1:c.227-79G>A	ENSP00000469446.1:n.227-79G>A
ENST00000598699.1:n.234+1G>A
ENST00000600271.5:c.-327+1G>A	ENSP00000472291.1:n.-327+1G>A
ENST00000602193.5:n.346+1G>A
NM_001291296.1:c.227-79G>A	NP_001278225.1:n.227-79G>A
NM_007059.3:c.394+1G>A	NP_008990.2:n.394+1G>A
NR_111923.1:n.498+1G>A
XM_011526398.1:c.580+1G>A	XP_011524700.1:n.580+1G>A
XM_011526399.1:c.580+1G>A	XP_011524701.1:n.580+1G>A
XM_011526400.1:c.580+1G>A	XP_011524702.1:n.580+1G>A
XM_011526401.1:c.413-79G>A	XP_011524703.1:n.413-79G>A
XM_017026226.1:c.646+1G>A	XP_016881715.1:n.646+1G>A
XM_017026227.1:c.646+1G>A	XP_016881716.1:n.646+1G>A
XM_017026228.1:c.646+1G>A	XP_016881717.1:n.646+1G>A
XM_017026229.1:c.646+1G>A	XP_016881718.1:n.646+1G>A
XM_024451333.1:c.394+1G>A	XP_024307101.1:n.394+1G>A
XR_001753597.1:n.848+1G>A
NM_007059.4:c.394+1G>A MANE Select	NP_008990.2:n.394+1G>A
NM_001291296.2:c.227-79G>A	NP_001278225.1:n.227-79G>A
NR_111923.2:n.453+1G>A