Canonical Allele Identifier: CA412848587

Gene: PORCN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48515795T>A , CM000685.2:g.48515795T>A	GRCh38
NC_000023.10:g.48374183T>A , CM000685.1:g.48374183T>A	GRCh37
NC_000023.9:g.48259127T>A	NCBI36
NG_009278.1:g.11813T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203475.3:c.1023+2T>A MANE Select	NP_982301.1:n.1023+2T>A
ENST00000326194.11:c.1023+2T>A MANE Select	ENSP00000322304.6:n.1023+2T>A
NM_001282167.1:c.777+2T>A	NP_001269096.1:n.777+2T>A
NM_001282167.2:c.777+2T>A	NP_001269096.1:n.777+2T>A
NM_022825.3:c.990+2T>A	NP_073736.2:n.990+2T>A
NM_022825.4:c.990+2T>A	NP_073736.2:n.990+2T>A
NM_203473.2:c.1008+2T>A	NP_982299.1:n.1008+2T>A
NM_203473.3:c.1008+2T>A	NP_982299.1:n.1008+2T>A
NM_203474.1:c.1005+2T>A	NP_982300.1:n.1005+2T>A
NM_203475.2:c.1023+2T>A	NP_982301.1:n.1023+2T>A
ENST00000326194.10:c.1023+2T>A	ENSP00000322304.6:n.1023+2T>A
ENST00000355092.4:c.855+2T>A	ENSP00000347207.4:n.855+2T>A
ENST00000355961.8:c.1008+2T>A	ENSP00000348233.4:n.1008+2T>A
ENST00000359882.8:c.1005+2T>A	ENSP00000352946.4:n.1005+2T>A
ENST00000361988.7:c.990+2T>A	ENSP00000354978.3:n.990+2T>A
ENST00000367574.8:c.1005+2T>A	ENSP00000356546.5:n.1005+2T>A
ENST00000367574.9:c.990+2T>A	ENSP00000356546.6:n.990+2T>A
ENST00000459953.1:n.352+2T>A
ENST00000472520.5:c.*331+2T>A	ENSP00000419858.1:n.*331+2T>A
ENST00000485288.6:c.*658+2T>A	ENSP00000420445.2:n.*658+2T>A
ENST00000485288.7:c.*658+2T>A	ENSP00000420445.3:n.*658+2T>A
ENST00000491243.5:n.1419+2T>A
ENST00000537758.5:c.1008+2T>A	ENSP00000446401.2:n.1008+2T>A
ENST00000537758.6:c.990+2T>A	ENSP00000446401.3:n.990+2T>A
ENST00000682661.1:n.2615+2T>A
ENST00000683804.1:n.157+2T>A
ENST00000683923.1:c.990+2T>A	ENSP00000506737.1:n.990+2T>A
ENST00000684722.1:n.2577+2T>A
XM_005272635.1:c.1347+2T>A	XP_005272692.1:n.1347+2T>A
XM_005272636.1:c.1329+2T>A	XP_005272693.1:n.1329+2T>A
XM_005272637.1:c.1275+2T>A	XP_005272694.1:n.1275+2T>A
XM_006724544.2:c.1128+2T>A	XP_006724607.1:n.1128+2T>A
XM_006724545.2:c.1074+2T>A	XP_006724608.1:n.1074+2T>A
XM_006724546.2:c.1023+2T>A	XP_006724609.1:n.1023+2T>A
XM_006724547.1:c.810+2T>A	XP_006724610.1:n.810+2T>A
XM_011543948.1:c.777+2T>A	XP_011542250.1:n.777+2T>A
XM_024452425.1:c.1521+2T>A	XP_024308193.1:n.1521+2T>A