Canonical Allele Identifier: CA2693630734

Gene: PORCN

Linked Data

• gnomAD v4: X-48516023-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516023G>C , CM000685.2:g.48516023G>C	GRCh38
NC_000023.10:g.48374411G>C , CM000685.1:g.48374411G>C	GRCh37
NC_000023.9:g.48259355G>C	NCBI36
NG_009278.1:g.12041G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1055-38G>C	ENSP00000356546.6:n.1055-38G>C
ENST00000537758.6:c.1055-38G>C	ENSP00000446401.3:n.1055-38G>C
ENST00000682661.1:n.2680-38G>C
ENST00000683804.1:n.291G>C
ENST00000683923.1:c.1055-38G>C	ENSP00000506737.1:n.1055-38G>C
ENST00000684722.1:n.2642-38G>C
ENST00000326194.11:c.1088-38G>C MANE Select	ENSP00000322304.6:n.1088-38G>C
ENST00000485288.7:c.*723-38G>C	ENSP00000420445.3:n.*723-38G>C
ENST00000326194.10:c.1088-38G>C	ENSP00000322304.6:n.1088-38G>C
ENST00000355092.4:c.920-38G>C	ENSP00000347207.4:n.920-38G>C
ENST00000355961.8:c.1073-38G>C	ENSP00000348233.4:n.1073-38G>C
ENST00000359882.8:c.1070-38G>C	ENSP00000352946.4:n.1070-38G>C
ENST00000361988.7:c.1055-38G>C	ENSP00000354978.3:n.1055-38G>C
ENST00000367574.8:c.1070-38G>C	ENSP00000356546.5:n.1070-38G>C
ENST00000459953.1:n.417-38G>C
ENST00000472520.5:c.*396-38G>C	ENSP00000419858.1:n.*396-38G>C
ENST00000485288.6:c.*723-38G>C	ENSP00000420445.2:n.*723-38G>C
ENST00000491243.5:n.1484-38G>C
ENST00000537758.5:c.1073-38G>C	ENSP00000446401.2:n.1073-38G>C
NM_001282167.1:c.842-38G>C	NP_001269096.1:n.842-38G>C
NM_022825.3:c.1055-38G>C	NP_073736.2:n.1055-38G>C
NM_203473.2:c.1073-38G>C	NP_982299.1:n.1073-38G>C
NM_203474.1:c.1070-38G>C	NP_982300.1:n.1070-38G>C
NM_203475.2:c.1088-38G>C	NP_982301.1:n.1088-38G>C
XM_005272635.1:c.1412-38G>C	XP_005272692.1:n.1412-38G>C
XM_005272636.1:c.1394-38G>C	XP_005272693.1:n.1394-38G>C
XM_005272637.1:c.1340-38G>C	XP_005272694.1:n.1340-38G>C
XM_006724544.2:c.1193-38G>C	XP_006724607.1:n.1193-38G>C
XM_006724545.2:c.1139-38G>C	XP_006724608.1:n.1139-38G>C
XM_006724546.2:c.1088-38G>C	XP_006724609.1:n.1088-38G>C
XM_006724547.1:c.875-38G>C	XP_006724610.1:n.875-38G>C
XM_011543948.1:c.842-38G>C	XP_011542250.1:n.842-38G>C
XM_024452425.1:c.1586-38G>C	XP_024308193.1:n.1586-38G>C
NM_001282167.2:c.842-38G>C	NP_001269096.1:n.842-38G>C
NM_022825.4:c.1055-38G>C	NP_073736.2:n.1055-38G>C
NM_203473.3:c.1073-38G>C	NP_982299.1:n.1073-38G>C
NM_203475.3:c.1088-38G>C MANE Select	NP_982301.1:n.1088-38G>C