Canonical Allele Identifier: CA2428293301

Gene: PORCN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511367T= , CM000685.2:g.48511367T=	GRCh38
NC_000023.10:g.48369755T= , CM000685.1:g.48369755T=	GRCh37
NC_000023.9:g.48254699T=	NCBI36
NG_009278.1:g.7385T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.209T=	ENSP00000356546.6:p.Leu70=
ENST00000537758.6:c.209T=	ENSP00000446401.3:p.Leu70=
ENST00000682661.1:n.368T=
ENST00000683923.1:c.209T=	ENSP00000506737.1:p.Leu70=
ENST00000684722.1:n.391T=
ENST00000326194.11:c.209T= MANE Select	ENSP00000322304.6:p.Leu70=
ENST00000485288.7:c.138T=	ENSP00000420445.3:p.Ala46=
ENST00000326194.10:c.209T=	ENSP00000322304.6:p.Leu70=
ENST00000355092.4:c.74T=	ENSP00000347207.4:p.Leu25=
ENST00000355961.8:c.209T=	ENSP00000348233.4:p.Leu70=
ENST00000359882.8:c.209T=	ENSP00000352946.4:p.Leu70=
ENST00000361988.7:c.209T=	ENSP00000354978.3:p.Leu70=
ENST00000367574.8:c.209T=	ENSP00000356546.5:p.Leu70=
ENST00000470275.2:c.138T=	ENSP00000418644.2:p.Ala46=
ENST00000472520.5:c.137-525T=	ENSP00000419858.1:n.137-525T=
ENST00000485288.6:c.330T=	ENSP00000420445.2:p.Ala110=
ENST00000486272.1:n.559T=
ENST00000489940.5:c.209T=	ENSP00000419212.1:p.Leu70=
ENST00000491243.5:n.248T=
ENST00000528612.5:c.138T=	ENSP00000431224.1:p.Ala46=
ENST00000537758.5:c.209T=	ENSP00000446401.2:p.Leu70=
NM_001282167.1:c.-5T=	NP_001269096.1:n.-5T=
NM_022825.3:c.209T=	NP_073736.2:p.Leu70=
NM_203473.2:c.209T=	NP_982299.1:p.Leu70=
NM_203474.1:c.209T=	NP_982300.1:p.Leu70=
NM_203475.2:c.209T=	NP_982301.1:p.Leu70=
XM_005272635.1:c.548T=	XP_005272692.1:p.Leu183=
XM_005272636.1:c.548T=	XP_005272693.1:p.Leu183=
XM_005272637.1:c.461T=	XP_005272694.1:p.Leu154=
XM_006724544.2:c.314T=	XP_006724607.1:p.Leu105=
XM_006724545.2:c.260T=	XP_006724608.1:p.Leu87=
XM_006724546.2:c.209T=	XP_006724609.1:p.Leu70=
XM_006724547.1:c.-5T=	XP_006724610.1:n.-5T=
XM_011543948.1:c.-5T=	XP_011542250.1:n.-5T=
XM_024452425.1:c.548T=	XP_024308193.1:p.Leu183=
NM_001282167.2:c.-5T=	NP_001269096.1:n.-5T=
NM_022825.4:c.209T=	NP_073736.2:p.Leu70=
NM_203473.3:c.209T=	NP_982299.1:p.Leu70=
NM_203475.3:c.209T= MANE Select	NP_982301.1:p.Leu70=