Canonical Allele Identifier: CA10402706
Gene: PORCN HGNC NCBI

Linked Data

ClinVar Variation Id: 1663393
ClinVar RCV Id: RCV002188485
dbSNP Id: rs781906860
gnomAD v2: X-48369715-G-A
gnomAD v3: X-48511327-G-A
gnomAD v4: X-48511327-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48511327G>A , CM000685.2:g.48511327G>A GRCh38
NC_000023.10:g.48369715G>A , CM000685.1:g.48369715G>A GRCh37
NC_000023.9:g.48254659G>A NCBI36
NG_009278.1:g.7345G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367574.9:c.169G>A ENSP00000356546.6:p.Val57Met
ENST00000537758.6:c.169G>A ENSP00000446401.3:p.Val57Met
ENST00000682661.1:n.328G>A
ENST00000683923.1:c.169G>A ENSP00000506737.1:p.Val57Met
ENST00000684722.1:n.351G>A
ENST00000326194.11:c.169G>A MANE Select ENSP00000322304.6:p.Val57Met
ENST00000485288.7:c.137-39G>A ENSP00000420445.3:n.137-39G>A
ENST00000326194.10:c.169G>A ENSP00000322304.6:p.Val57Met
ENST00000355092.4:c.34G>A ENSP00000347207.4:p.Val12Met
ENST00000355961.8:c.169G>A ENSP00000348233.4:p.Val57Met
ENST00000359882.8:c.169G>A ENSP00000352946.4:p.Val57Met
ENST00000361988.7:c.169G>A ENSP00000354978.3:p.Val57Met
ENST00000367574.8:c.169G>A ENSP00000356546.5:p.Val57Met
ENST00000470275.2:c.137-39G>A ENSP00000418644.2:n.137-39G>A
ENST00000472520.5:c.137-565G>A ENSP00000419858.1:n.137-565G>A
ENST00000485288.6:c.329-39G>A ENSP00000420445.2:n.329-39G>A
ENST00000486272.1:n.519G>A
ENST00000489940.5:c.169G>A ENSP00000419212.1:p.Val57Met
ENST00000491243.5:n.247-39G>A
ENST00000528612.5:c.137-39G>A ENSP00000431224.1:n.137-39G>A
ENST00000537758.5:c.169G>A ENSP00000446401.2:p.Val57Met
NM_001282167.1:c.-6-39G>A NP_001269096.1:n.-6-39G>A
NM_022825.3:c.169G>A NP_073736.2:p.Val57Met
NM_203473.2:c.169G>A NP_982299.1:p.Val57Met
NM_203474.1:c.169G>A NP_982300.1:p.Val57Met
NM_203475.2:c.169G>A NP_982301.1:p.Val57Met
XM_005272635.1:c.508G>A XP_005272692.1:p.Val170Met
XM_005272636.1:c.508G>A XP_005272693.1:p.Val170Met
XM_005272637.1:c.421G>A XP_005272694.1:p.Val141Met
XM_006724544.2:c.274G>A XP_006724607.1:p.Val92Met
XM_006724545.2:c.259-39G>A XP_006724608.1:n.259-39G>A
XM_006724546.2:c.169G>A XP_006724609.1:p.Val57Met
XM_006724547.1:c.-6-39G>A XP_006724610.1:n.-6-39G>A
XM_011543948.1:c.-6-39G>A XP_011542250.1:n.-6-39G>A
XM_024452425.1:c.508G>A XP_024308193.1:p.Val170Met
NM_001282167.2:c.-6-39G>A NP_001269096.1:n.-6-39G>A
NM_022825.4:c.169G>A NP_073736.2:p.Val57Met
NM_203473.3:c.169G>A NP_982299.1:p.Val57Met
NM_203475.3:c.169G>A MANE Select NP_982301.1:p.Val57Met