Canonical Allele Identifier: CA412849666

Gene: PORCN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48517294G>A , CM000685.2:g.48517294G>A	GRCh38
NC_000023.10:g.48375682G>A , CM000685.1:g.48375682G>A	GRCh37
NC_000023.9:g.48260626G>A	NCBI36
NG_007452.1:g.519G>A
NG_009278.1:g.13312G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_203475.3:c.1284+1G>A MANE Select	NP_982301.1:n.1284+1G>A
ENST00000326194.11:c.1284+1G>A MANE Select	ENSP00000322304.6:n.1284+1G>A
NM_001282167.1:c.1038+1G>A	NP_001269096.1:n.1038+1G>A
NM_001282167.2:c.1038+1G>A	NP_001269096.1:n.1038+1G>A
NM_022825.3:c.1251+1G>A	NP_073736.2:n.1251+1G>A
NM_022825.4:c.1251+1G>A	NP_073736.2:n.1251+1G>A
NM_203473.2:c.1269+1G>A	NP_982299.1:n.1269+1G>A
NM_203473.3:c.1269+1G>A	NP_982299.1:n.1269+1G>A
NM_203474.1:c.1266+1G>A	NP_982300.1:n.1266+1G>A
NM_203475.2:c.1284+1G>A	NP_982301.1:n.1284+1G>A
ENST00000326194.10:c.1284+1G>A	ENSP00000322304.6:n.1284+1G>A
ENST00000355092.4:c.1116+1G>A	ENSP00000347207.4:n.1116+1G>A
ENST00000355961.8:c.1269+1G>A	ENSP00000348233.4:n.1269+1G>A
ENST00000359882.8:c.1266+1G>A	ENSP00000352946.4:n.1266+1G>A
ENST00000361988.7:c.1251+1G>A	ENSP00000354978.3:n.1251+1G>A
ENST00000367574.8:c.1266+1G>A	ENSP00000356546.5:n.1266+1G>A
ENST00000367574.9:c.1251+1G>A	ENSP00000356546.6:n.1251+1G>A
ENST00000472520.5:c.*592+1G>A	ENSP00000419858.1:n.*592+1G>A
ENST00000485288.6:c.*919+1G>A	ENSP00000420445.2:n.*919+1G>A
ENST00000485288.7:c.*919+1G>A	ENSP00000420445.3:n.*919+1G>A
ENST00000491243.5:n.1680+1G>A
ENST00000537758.5:c.1269+1G>A	ENSP00000446401.2:n.1269+1G>A
ENST00000537758.6:c.1251+1G>A	ENSP00000446401.3:n.1251+1G>A
ENST00000682661.1:n.2876+1G>A
ENST00000683804.1:n.1561+1G>A
ENST00000683923.1:c.1251+1G>A	ENSP00000506737.1:n.1251+1G>A
ENST00000684722.1:n.2838+1G>A
XM_005272635.1:c.1608+1G>A	XP_005272692.1:n.1608+1G>A
XM_005272636.1:c.1590+1G>A	XP_005272693.1:n.1590+1G>A
XM_005272637.1:c.1536+1G>A	XP_005272694.1:n.1536+1G>A
XM_006724544.2:c.1389+1G>A	XP_006724607.1:n.1389+1G>A
XM_006724545.2:c.1335+1G>A	XP_006724608.1:n.1335+1G>A
XM_006724546.2:c.1284+1G>A	XP_006724609.1:n.1284+1G>A
XM_006724547.1:c.1071+1G>A	XP_006724610.1:n.1071+1G>A
XM_011543948.1:c.1038+1G>A	XP_011542250.1:n.1038+1G>A