Canonical Allele Identifier: CA412848936

Gene: PORCN

Linked Data

• dbSNP Id: rs1245335951
• gnomAD v2: X-48374460-C-A
• gnomAD v3: X-48516072-C-A
• gnomAD v4: X-48516072-C-A
• MyVariant Identifiers: chrX:g.48374460C>A (hg19) ; chrX:g.48516072C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516072C>A , CM000685.2:g.48516072C>A	GRCh38
NC_000023.10:g.48374460C>A , CM000685.1:g.48374460C>A	GRCh37
NC_000023.9:g.48259404C>A	NCBI36
NG_009278.1:g.12090C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1066C>A	ENSP00000356546.6:p.Arg356Ser
ENST00000537758.6:c.1066C>A	ENSP00000446401.3:p.Arg356Ser
ENST00000682661.1:n.2691C>A
ENST00000683804.1:n.340C>A
ENST00000683923.1:c.1066C>A	ENSP00000506737.1:p.Arg356Ser
ENST00000684722.1:n.2653C>A
ENST00000326194.11:c.1099C>A MANE Select	ENSP00000322304.6:p.Arg367Ser
ENST00000485288.7:c.*734C>A	ENSP00000420445.3:n.*734C>A
ENST00000326194.10:c.1099C>A	ENSP00000322304.6:p.Arg367Ser
ENST00000355092.4:c.931C>A	ENSP00000347207.4:p.Arg311Ser
ENST00000355961.8:c.1084C>A	ENSP00000348233.4:p.Arg362Ser
ENST00000359882.8:c.1081C>A	ENSP00000352946.4:p.Arg361Ser
ENST00000361988.7:c.1066C>A	ENSP00000354978.3:p.Arg356Ser
ENST00000367574.8:c.1081C>A	ENSP00000356546.5:p.Arg361Ser
ENST00000459953.1:n.428C>A
ENST00000472520.5:c.*407C>A	ENSP00000419858.1:n.*407C>A
ENST00000485288.6:c.*734C>A	ENSP00000420445.2:n.*734C>A
ENST00000491243.5:n.1495C>A
ENST00000537758.5:c.1084C>A	ENSP00000446401.2:p.Arg362Ser
NM_001282167.1:c.853C>A	NP_001269096.1:p.Arg285Ser
NM_022825.3:c.1066C>A	NP_073736.2:p.Arg356Ser
NM_203473.2:c.1084C>A	NP_982299.1:p.Arg362Ser
NM_203474.1:c.1081C>A	NP_982300.1:p.Arg361Ser
NM_203475.2:c.1099C>A	NP_982301.1:p.Arg367Ser
XM_005272635.1:c.1423C>A	XP_005272692.1:p.Arg475Ser
XM_005272636.1:c.1405C>A	XP_005272693.1:p.Arg469Ser
XM_005272637.1:c.1351C>A	XP_005272694.1:p.Arg451Ser
XM_006724544.2:c.1204C>A	XP_006724607.1:p.Arg402Ser
XM_006724545.2:c.1150C>A	XP_006724608.1:p.Arg384Ser
XM_006724546.2:c.1099C>A	XP_006724609.1:p.Arg367Ser
XM_006724547.1:c.886C>A	XP_006724610.1:p.Arg296Ser
XM_011543948.1:c.853C>A	XP_011542250.1:p.Arg285Ser
XM_024452425.1:c.1597C>A	XP_024308193.1:p.Arg533Ser
NM_001282167.2:c.853C>A	NP_001269096.1:p.Arg285Ser
NM_022825.4:c.1066C>A	NP_073736.2:p.Arg356Ser
NM_203473.3:c.1084C>A	NP_982299.1:p.Arg362Ser
NM_203475.3:c.1099C>A MANE Select	NP_982301.1:p.Arg367Ser