Canonical Allele Identifier: CA16608933
Gene: PORCN HGNC NCBI

Linked Data

ClinVar Variation Id: 392684
ClinVar RCV Id: RCV000438464
dbSNP Id: rs1057524593

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48514238A>C , CM000685.2:g.48514238A>C GRCh38
NC_000023.10:g.48372626A>C , CM000685.1:g.48372626A>C GRCh37
NC_000023.9:g.48257570A>C NCBI36
NG_009278.1:g.10256A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000367574.9:c.687-2A>C ENSP00000356546.6:n.687-2A>C
ENST00000537758.6:c.687-2A>C ENSP00000446401.3:n.687-2A>C
ENST00000682661.1:n.2153-2A>C
ENST00000683923.1:c.687-2A>C ENSP00000506737.1:n.687-2A>C
ENST00000684722.1:n.2272A>C
ENST00000326194.11:c.720-2A>C MANE Select ENSP00000322304.6:n.720-2A>C
ENST00000485288.7:c.*355-2A>C ENSP00000420445.3:n.*355-2A>C
ENST00000326194.10:c.720-2A>C ENSP00000322304.6:n.720-2A>C
ENST00000355092.4:c.552-2A>C ENSP00000347207.4:n.552-2A>C
ENST00000355961.8:c.705-2A>C ENSP00000348233.4:n.705-2A>C
ENST00000359882.8:c.702-2A>C ENSP00000352946.4:n.702-2A>C
ENST00000361988.7:c.687-2A>C ENSP00000354978.3:n.687-2A>C
ENST00000367574.8:c.702-2A>C ENSP00000356546.5:n.702-2A>C
ENST00000472520.5:c.*28-2A>C ENSP00000419858.1:n.*28-2A>C
ENST00000485288.6:c.*355-2A>C ENSP00000420445.2:n.*355-2A>C
ENST00000491243.5:n.1116-2A>C
ENST00000537758.5:c.705-2A>C ENSP00000446401.2:n.705-2A>C
NM_001282167.1:c.474-2A>C NP_001269096.1:n.474-2A>C
NM_022825.3:c.687-2A>C NP_073736.2:n.687-2A>C
NM_203473.2:c.705-2A>C NP_982299.1:n.705-2A>C
NM_203474.1:c.702-2A>C NP_982300.1:n.702-2A>C
NM_203475.2:c.720-2A>C NP_982301.1:n.720-2A>C
XM_005272635.1:c.1044-2A>C XP_005272692.1:n.1044-2A>C
XM_005272636.1:c.1026-2A>C XP_005272693.1:n.1026-2A>C
XM_005272637.1:c.972-2A>C XP_005272694.1:n.972-2A>C
XM_006724544.2:c.825-2A>C XP_006724607.1:n.825-2A>C
XM_006724545.2:c.771-2A>C XP_006724608.1:n.771-2A>C
XM_006724546.2:c.720-2A>C XP_006724609.1:n.720-2A>C
XM_006724547.1:c.507-2A>C XP_006724610.1:n.507-2A>C
XM_011543948.1:c.474-2A>C XP_011542250.1:n.474-2A>C
XM_024452425.1:c.1059-2A>C XP_024308193.1:n.1059-2A>C
NM_001282167.2:c.474-2A>C NP_001269096.1:n.474-2A>C
NM_022825.4:c.687-2A>C NP_073736.2:n.687-2A>C
NM_203473.3:c.705-2A>C NP_982299.1:n.705-2A>C
NM_203475.3:c.720-2A>C MANE Select NP_982301.1:n.720-2A>C