Canonical Allele Identifier: CA412849028

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48374484T>G (hg19) ; chrX:g.48516096T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516096T>G , CM000685.2:g.48516096T>G	GRCh38
NC_000023.10:g.48374484T>G , CM000685.1:g.48374484T>G	GRCh37
NC_000023.9:g.48259428T>G	NCBI36
NG_009278.1:g.12114T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1090T>G	ENSP00000356546.6:p.Cys364Gly
ENST00000537758.6:c.1090T>G	ENSP00000446401.3:p.Cys364Gly
ENST00000682661.1:n.2715T>G
ENST00000683804.1:n.364T>G
ENST00000683923.1:c.1090T>G	ENSP00000506737.1:p.Cys364Gly
ENST00000684722.1:n.2677T>G
ENST00000326194.11:c.1123T>G MANE Select	ENSP00000322304.6:p.Cys375Gly
ENST00000485288.7:c.*758T>G	ENSP00000420445.3:n.*758T>G
ENST00000326194.10:c.1123T>G	ENSP00000322304.6:p.Cys375Gly
ENST00000355092.4:c.955T>G	ENSP00000347207.4:p.Cys319Gly
ENST00000355961.8:c.1108T>G	ENSP00000348233.4:p.Cys370Gly
ENST00000359882.8:c.1105T>G	ENSP00000352946.4:p.Cys369Gly
ENST00000361988.7:c.1090T>G	ENSP00000354978.3:p.Cys364Gly
ENST00000367574.8:c.1105T>G	ENSP00000356546.5:p.Cys369Gly
ENST00000459953.1:n.452T>G
ENST00000472520.5:c.*431T>G	ENSP00000419858.1:n.*431T>G
ENST00000485288.6:c.*758T>G	ENSP00000420445.2:n.*758T>G
ENST00000491243.5:n.1519T>G
ENST00000537758.5:c.1108T>G	ENSP00000446401.2:p.Cys370Gly
NM_001282167.1:c.877T>G	NP_001269096.1:p.Cys293Gly
NM_022825.3:c.1090T>G	NP_073736.2:p.Cys364Gly
NM_203473.2:c.1108T>G	NP_982299.1:p.Cys370Gly
NM_203474.1:c.1105T>G	NP_982300.1:p.Cys369Gly
NM_203475.2:c.1123T>G	NP_982301.1:p.Cys375Gly
XM_005272635.1:c.1447T>G	XP_005272692.1:p.Cys483Gly
XM_005272636.1:c.1429T>G	XP_005272693.1:p.Cys477Gly
XM_005272637.1:c.1375T>G	XP_005272694.1:p.Cys459Gly
XM_006724544.2:c.1228T>G	XP_006724607.1:p.Cys410Gly
XM_006724545.2:c.1174T>G	XP_006724608.1:p.Cys392Gly
XM_006724546.2:c.1123T>G	XP_006724609.1:p.Cys375Gly
XM_006724547.1:c.910T>G	XP_006724610.1:p.Cys304Gly
XM_011543948.1:c.877T>G	XP_011542250.1:p.Cys293Gly
XM_024452425.1:c.1621T>G	XP_024308193.1:p.Cys541Gly
NM_001282167.2:c.877T>G	NP_001269096.1:p.Cys293Gly
NM_022825.4:c.1090T>G	NP_073736.2:p.Cys364Gly
NM_203473.3:c.1108T>G	NP_982299.1:p.Cys370Gly
NM_203475.3:c.1123T>G MANE Select	NP_982301.1:p.Cys375Gly