Canonical Allele Identifier: CA2428293327

Gene: PORCN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511458C= , CM000685.2:g.48511458C=	GRCh38
NC_000023.10:g.48369846C= , CM000685.1:g.48369846C=	GRCh37
NC_000023.9:g.48254790C=	NCBI36
NG_009278.1:g.7476C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.300C=	ENSP00000356546.6:p.Ser100=
ENST00000537758.6:c.300C=	ENSP00000446401.3:p.Ser100=
ENST00000682661.1:n.459C=
ENST00000683923.1:c.300C=	ENSP00000506737.1:p.Ser100=
ENST00000684722.1:n.482C=
ENST00000326194.11:c.300C= MANE Select	ENSP00000322304.6:p.Ser100=
ENST00000485288.7:c.229C=	ENSP00000420445.3:p.Arg77=
ENST00000326194.10:c.300C=	ENSP00000322304.6:p.Ser100=
ENST00000355092.4:c.165C=	ENSP00000347207.4:p.Ser55=
ENST00000355961.8:c.300C=	ENSP00000348233.4:p.Ser100=
ENST00000359882.8:c.300C=	ENSP00000352946.4:p.Ser100=
ENST00000361988.7:c.300C=	ENSP00000354978.3:p.Ser100=
ENST00000367574.8:c.300C=	ENSP00000356546.5:p.Ser100=
ENST00000470275.2:c.229C=	ENSP00000418644.2:p.Arg77=
ENST00000472520.5:c.137-434C=	ENSP00000419858.1:n.137-434C=
ENST00000485288.6:c.421C=	ENSP00000420445.2:p.Arg141=
ENST00000491243.5:n.339C=
ENST00000528612.5:c.229C=	ENSP00000431224.1:p.Arg77=
ENST00000537758.5:c.300C=	ENSP00000446401.2:p.Ser100=
NM_001282167.1:c.87C=	NP_001269096.1:p.Ser29=
NM_022825.3:c.300C=	NP_073736.2:p.Ser100=
NM_203473.2:c.300C=	NP_982299.1:p.Ser100=
NM_203474.1:c.300C=	NP_982300.1:p.Ser100=
NM_203475.2:c.300C=	NP_982301.1:p.Ser100=
XM_005272635.1:c.639C=	XP_005272692.1:p.Ser213=
XM_005272636.1:c.639C=	XP_005272693.1:p.Ser213=
XM_005272637.1:c.552C=	XP_005272694.1:p.Ser184=
XM_006724544.2:c.405C=	XP_006724607.1:p.Ser135=
XM_006724545.2:c.351C=	XP_006724608.1:p.Ser117=
XM_006724546.2:c.300C=	XP_006724609.1:p.Ser100=
XM_006724547.1:c.87C=	XP_006724610.1:p.Ser29=
XM_011543948.1:c.87C=	XP_011542250.1:p.Ser29=
XM_024452425.1:c.639C=	XP_024308193.1:p.Ser213=
NM_001282167.2:c.87C=	NP_001269096.1:p.Ser29=
NM_022825.4:c.300C=	NP_073736.2:p.Ser100=
NM_203473.3:c.300C=	NP_982299.1:p.Ser100=
NM_203475.3:c.300C= MANE Select	NP_982301.1:p.Ser100=