Canonical Allele Identifier: CA412848917

Gene: PORCN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516067G>A , CM000685.2:g.48516067G>A	GRCh38
NC_000023.10:g.48374455G>A , CM000685.1:g.48374455G>A	GRCh37
NC_000023.9:g.48259399G>A	NCBI36
NG_009278.1:g.12085G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203475.3:c.1094G>A MANE Select	NP_982301.1:p.Arg365Gln
ENST00000326194.11:c.1094G>A MANE Select	ENSP00000322304.6:p.Arg365Gln
NM_001282167.1:c.848G>A	NP_001269096.1:p.Arg283Gln
NM_001282167.2:c.848G>A	NP_001269096.1:p.Arg283Gln
NM_022825.3:c.1061G>A	NP_073736.2:p.Arg354Gln
NM_022825.4:c.1061G>A	NP_073736.2:p.Arg354Gln
NM_203473.2:c.1079G>A	NP_982299.1:p.Arg360Gln
NM_203473.3:c.1079G>A	NP_982299.1:p.Arg360Gln
NM_203474.1:c.1076G>A	NP_982300.1:p.Arg359Gln
NM_203475.2:c.1094G>A	NP_982301.1:p.Arg365Gln
ENST00000326194.10:c.1094G>A	ENSP00000322304.6:p.Arg365Gln
ENST00000355092.4:c.926G>A	ENSP00000347207.4:p.Arg309Gln
ENST00000355961.8:c.1079G>A	ENSP00000348233.4:p.Arg360Gln
ENST00000359882.8:c.1076G>A	ENSP00000352946.4:p.Arg359Gln
ENST00000361988.7:c.1061G>A	ENSP00000354978.3:p.Arg354Gln
ENST00000367574.8:c.1076G>A	ENSP00000356546.5:p.Arg359Gln
ENST00000367574.9:c.1061G>A	ENSP00000356546.6:p.Arg354Gln
ENST00000459953.1:n.423G>A
ENST00000472520.5:c.*402G>A	ENSP00000419858.1:n.*402G>A
ENST00000485288.6:c.*729G>A	ENSP00000420445.2:n.*729G>A
ENST00000485288.7:c.*729G>A	ENSP00000420445.3:n.*729G>A
ENST00000491243.5:n.1490G>A
ENST00000537758.5:c.1079G>A	ENSP00000446401.2:p.Arg360Gln
ENST00000537758.6:c.1061G>A	ENSP00000446401.3:p.Arg354Gln
ENST00000682661.1:n.2686G>A
ENST00000683804.1:n.335G>A
ENST00000683923.1:c.1061G>A	ENSP00000506737.1:p.Arg354Gln
ENST00000684722.1:n.2648G>A
XM_005272635.1:c.1418G>A	XP_005272692.1:p.Arg473Gln
XM_005272636.1:c.1400G>A	XP_005272693.1:p.Arg467Gln
XM_005272637.1:c.1346G>A	XP_005272694.1:p.Arg449Gln
XM_006724544.2:c.1199G>A	XP_006724607.1:p.Arg400Gln
XM_006724545.2:c.1145G>A	XP_006724608.1:p.Arg382Gln
XM_006724546.2:c.1094G>A	XP_006724609.1:p.Arg365Gln
XM_006724547.1:c.881G>A	XP_006724610.1:p.Arg294Gln
XM_011543948.1:c.848G>A	XP_011542250.1:p.Arg283Gln
XM_024452425.1:c.1592G>A	XP_024308193.1:p.Arg531Gln