Canonical Allele Identifier: CA412849021

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48374482C>G (hg19) ; chrX:g.48516094C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516094C>G , CM000685.2:g.48516094C>G	GRCh38
NC_000023.10:g.48374482C>G , CM000685.1:g.48374482C>G	GRCh37
NC_000023.9:g.48259426C>G	NCBI36
NG_009278.1:g.12112C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1088C>G	ENSP00000356546.6:p.Ala363Gly
ENST00000537758.6:c.1088C>G	ENSP00000446401.3:p.Ala363Gly
ENST00000682661.1:n.2713C>G
ENST00000683804.1:n.362C>G
ENST00000683923.1:c.1088C>G	ENSP00000506737.1:p.Ala363Gly
ENST00000684722.1:n.2675C>G
ENST00000326194.11:c.1121C>G MANE Select	ENSP00000322304.6:p.Ala374Gly
ENST00000485288.7:c.*756C>G	ENSP00000420445.3:n.*756C>G
ENST00000326194.10:c.1121C>G	ENSP00000322304.6:p.Ala374Gly
ENST00000355092.4:c.953C>G	ENSP00000347207.4:p.Ala318Gly
ENST00000355961.8:c.1106C>G	ENSP00000348233.4:p.Ala369Gly
ENST00000359882.8:c.1103C>G	ENSP00000352946.4:p.Ala368Gly
ENST00000361988.7:c.1088C>G	ENSP00000354978.3:p.Ala363Gly
ENST00000367574.8:c.1103C>G	ENSP00000356546.5:p.Ala368Gly
ENST00000459953.1:n.450C>G
ENST00000472520.5:c.*429C>G	ENSP00000419858.1:n.*429C>G
ENST00000485288.6:c.*756C>G	ENSP00000420445.2:n.*756C>G
ENST00000491243.5:n.1517C>G
ENST00000537758.5:c.1106C>G	ENSP00000446401.2:p.Ala369Gly
NM_001282167.1:c.875C>G	NP_001269096.1:p.Ala292Gly
NM_022825.3:c.1088C>G	NP_073736.2:p.Ala363Gly
NM_203473.2:c.1106C>G	NP_982299.1:p.Ala369Gly
NM_203474.1:c.1103C>G	NP_982300.1:p.Ala368Gly
NM_203475.2:c.1121C>G	NP_982301.1:p.Ala374Gly
XM_005272635.1:c.1445C>G	XP_005272692.1:p.Ala482Gly
XM_005272636.1:c.1427C>G	XP_005272693.1:p.Ala476Gly
XM_005272637.1:c.1373C>G	XP_005272694.1:p.Ala458Gly
XM_006724544.2:c.1226C>G	XP_006724607.1:p.Ala409Gly
XM_006724545.2:c.1172C>G	XP_006724608.1:p.Ala391Gly
XM_006724546.2:c.1121C>G	XP_006724609.1:p.Ala374Gly
XM_006724547.1:c.908C>G	XP_006724610.1:p.Ala303Gly
XM_011543948.1:c.875C>G	XP_011542250.1:p.Ala292Gly
XM_024452425.1:c.1619C>G	XP_024308193.1:p.Ala540Gly
NM_001282167.2:c.875C>G	NP_001269096.1:p.Ala292Gly
NM_022825.4:c.1088C>G	NP_073736.2:p.Ala363Gly
NM_203473.3:c.1106C>G	NP_982299.1:p.Ala369Gly
NM_203475.3:c.1121C>G MANE Select	NP_982301.1:p.Ala374Gly