Canonical Allele Identifier: CA412848495

Gene: PORCN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48515771A>G , CM000685.2:g.48515771A>G	GRCh38
NC_000023.10:g.48374159A>G , CM000685.1:g.48374159A>G	GRCh37
NC_000023.9:g.48259103A>G	NCBI36
NG_009278.1:g.11789A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_203475.3:c.1001A>G MANE Select	NP_982301.1:p.Tyr334Cys
ENST00000326194.11:c.1001A>G MANE Select	ENSP00000322304.6:p.Tyr334Cys
NM_001282167.1:c.755A>G	NP_001269096.1:p.Tyr252Cys
NM_001282167.2:c.755A>G	NP_001269096.1:p.Tyr252Cys
NM_022825.3:c.968A>G	NP_073736.2:p.Tyr323Cys
NM_022825.4:c.968A>G	NP_073736.2:p.Tyr323Cys
NM_203473.2:c.986A>G	NP_982299.1:p.Tyr329Cys
NM_203473.3:c.986A>G	NP_982299.1:p.Tyr329Cys
NM_203474.1:c.983A>G	NP_982300.1:p.Tyr328Cys
NM_203475.2:c.1001A>G	NP_982301.1:p.Tyr334Cys
ENST00000326194.10:c.1001A>G	ENSP00000322304.6:p.Tyr334Cys
ENST00000355092.4:c.833A>G	ENSP00000347207.4:p.Tyr278Cys
ENST00000355961.8:c.986A>G	ENSP00000348233.4:p.Tyr329Cys
ENST00000359882.8:c.983A>G	ENSP00000352946.4:p.Tyr328Cys
ENST00000361988.7:c.968A>G	ENSP00000354978.3:p.Tyr323Cys
ENST00000367574.8:c.983A>G	ENSP00000356546.5:p.Tyr328Cys
ENST00000367574.9:c.968A>G	ENSP00000356546.6:p.Tyr323Cys
ENST00000459953.1:n.330A>G
ENST00000472520.5:c.*309A>G	ENSP00000419858.1:n.*309A>G
ENST00000485288.6:c.*636A>G	ENSP00000420445.2:n.*636A>G
ENST00000485288.7:c.*636A>G	ENSP00000420445.3:n.*636A>G
ENST00000491243.5:n.1397A>G
ENST00000537758.5:c.986A>G	ENSP00000446401.2:p.Tyr329Cys
ENST00000537758.6:c.968A>G	ENSP00000446401.3:p.Tyr323Cys
ENST00000682661.1:n.2593A>G
ENST00000683804.1:n.135A>G
ENST00000683923.1:c.968A>G	ENSP00000506737.1:p.Tyr323Cys
ENST00000684722.1:n.2555A>G
XM_005272635.1:c.1325A>G	XP_005272692.1:p.Tyr442Cys
XM_005272636.1:c.1307A>G	XP_005272693.1:p.Tyr436Cys
XM_005272637.1:c.1253A>G	XP_005272694.1:p.Tyr418Cys
XM_006724544.2:c.1106A>G	XP_006724607.1:p.Tyr369Cys
XM_006724545.2:c.1052A>G	XP_006724608.1:p.Tyr351Cys
XM_006724546.2:c.1001A>G	XP_006724609.1:p.Tyr334Cys
XM_006724547.1:c.788A>G	XP_006724610.1:p.Tyr263Cys
XM_011543948.1:c.755A>G	XP_011542250.1:p.Tyr252Cys
XM_024452425.1:c.1499A>G	XP_024308193.1:p.Tyr500Cys