Canonical Allele Identifier: CA255493

Gene: PORCN

Linked Data

• ClinVar Variation Id: 10702
• ClinVar RCV Id: RCV000011448 ; RCV000599522
• dbSNP Id: rs137852218
• MyVariant Identifiers: chrX:g.48370320C>T (hg19) ; chrX:g.48511932C>T (hg38)
• PubMed: PMID:17546031

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511932C>T , CM000685.2:g.48511932C>T	GRCh38
NC_000023.10:g.48370320C>T , CM000685.1:g.48370320C>T	GRCh37
NC_000023.9:g.48255264C>T	NCBI36
NG_009278.1:g.7950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.370C>T	ENSP00000356546.6:p.Arg124Ter
ENST00000537758.6:c.370C>T	ENSP00000446401.3:p.Arg124Ter
ENST00000682661.1:n.529C>T
ENST00000683923.1:c.370C>T	ENSP00000506737.1:p.Arg124Ter
ENST00000684722.1:n.552C>T
ENST00000326194.11:c.370C>T MANE Select	ENSP00000322304.6:p.Arg124Ter
ENST00000485288.7:c.*38C>T	ENSP00000420445.3:n.*38C>T
ENST00000326194.10:c.370C>T	ENSP00000322304.6:p.Arg124Ter
ENST00000355092.4:c.235C>T	ENSP00000347207.4:p.Arg79Ter
ENST00000355961.8:c.370C>T	ENSP00000348233.4:p.Arg124Ter
ENST00000359882.8:c.370C>T	ENSP00000352946.4:p.Arg124Ter
ENST00000361988.7:c.370C>T	ENSP00000354978.3:p.Arg124Ter
ENST00000367574.8:c.370C>T	ENSP00000356546.5:p.Arg124Ter
ENST00000470275.2:c.*38C>T	ENSP00000418644.2:n.*38C>T
ENST00000472520.5:c.*24C>T	ENSP00000419858.1:n.*24C>T
ENST00000485288.6:c.*38C>T	ENSP00000420445.2:n.*38C>T
ENST00000491243.5:n.409C>T
ENST00000528612.5:c.*38C>T	ENSP00000431224.1:n.*38C>T
ENST00000537758.5:c.370C>T	ENSP00000446401.2:p.Arg124Ter
NM_001282167.1:c.157C>T	NP_001269096.1:p.Arg53Ter
NM_022825.3:c.370C>T	NP_073736.2:p.Arg124Ter
NM_203473.2:c.370C>T	NP_982299.1:p.Arg124Ter
NM_203474.1:c.370C>T	NP_982300.1:p.Arg124Ter
NM_203475.2:c.370C>T	NP_982301.1:p.Arg124Ter
XM_005272635.1:c.709C>T	XP_005272692.1:p.Arg237Ter
XM_005272636.1:c.709C>T	XP_005272693.1:p.Arg237Ter
XM_005272637.1:c.622C>T	XP_005272694.1:p.Arg208Ter
XM_006724544.2:c.475C>T	XP_006724607.1:p.Arg159Ter
XM_006724545.2:c.421C>T	XP_006724608.1:p.Arg141Ter
XM_006724546.2:c.370C>T	XP_006724609.1:p.Arg124Ter
XM_006724547.1:c.157C>T	XP_006724610.1:p.Arg53Ter
XM_011543948.1:c.157C>T	XP_011542250.1:p.Arg53Ter
XM_024452425.1:c.709C>T	XP_024308193.1:p.Arg237Ter
NM_001282167.2:c.157C>T	NP_001269096.1:p.Arg53Ter
NM_022825.4:c.370C>T	NP_073736.2:p.Arg124Ter
NM_203473.3:c.370C>T	NP_982299.1:p.Arg124Ter
NM_203475.3:c.370C>T MANE Select	NP_982301.1:p.Arg124Ter