Canonical Allele Identifier: CA1132952366

Gene: PORCN

Linked Data

• dbSNP Id: rs2061675998
• gnomAD v3: X-48511574-G-T
• gnomAD v4: X-48511574-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511574G>T , CM000685.2:g.48511574G>T	GRCh38
NC_000023.10:g.48369962G>T , CM000685.1:g.48369962G>T	GRCh37
NC_000023.9:g.48254906G>T	NCBI36
NG_009278.1:g.7592G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.329+87G>T	ENSP00000356546.6:n.329+87G>T
ENST00000537758.6:c.329+87G>T	ENSP00000446401.3:n.329+87G>T
ENST00000682661.1:n.488+87G>T
ENST00000683923.1:c.329+87G>T	ENSP00000506737.1:n.329+87G>T
ENST00000684722.1:n.511+87G>T
ENST00000326194.11:c.329+87G>T MANE Select	ENSP00000322304.6:n.329+87G>T
ENST00000485288.7:c.258+87G>T	ENSP00000420445.3:n.258+87G>T
ENST00000326194.10:c.329+87G>T	ENSP00000322304.6:n.329+87G>T
ENST00000355092.4:c.194+87G>T	ENSP00000347207.4:n.194+87G>T
ENST00000355961.8:c.329+87G>T	ENSP00000348233.4:n.329+87G>T
ENST00000359882.8:c.329+87G>T	ENSP00000352946.4:n.329+87G>T
ENST00000361988.7:c.329+87G>T	ENSP00000354978.3:n.329+87G>T
ENST00000367574.8:c.329+87G>T	ENSP00000356546.5:n.329+87G>T
ENST00000470275.2:c.258+87G>T	ENSP00000418644.2:n.258+87G>T
ENST00000472520.5:c.137-318G>T	ENSP00000419858.1:n.137-318G>T
ENST00000485288.6:c.450+87G>T	ENSP00000420445.2:n.450+87G>T
ENST00000491243.5:n.368+87G>T
ENST00000528612.5:c.258+87G>T	ENSP00000431224.1:n.258+87G>T
ENST00000537758.5:c.329+87G>T	ENSP00000446401.2:n.329+87G>T
NM_001282167.1:c.116+87G>T	NP_001269096.1:n.116+87G>T
NM_022825.3:c.329+87G>T	NP_073736.2:n.329+87G>T
NM_203473.2:c.329+87G>T	NP_982299.1:n.329+87G>T
NM_203474.1:c.329+87G>T	NP_982300.1:n.329+87G>T
NM_203475.2:c.329+87G>T	NP_982301.1:n.329+87G>T
XM_005272635.1:c.668+87G>T	XP_005272692.1:n.668+87G>T
XM_005272636.1:c.668+87G>T	XP_005272693.1:n.668+87G>T
XM_005272637.1:c.581+87G>T	XP_005272694.1:n.581+87G>T
XM_006724544.2:c.434+87G>T	XP_006724607.1:n.434+87G>T
XM_006724545.2:c.380+87G>T	XP_006724608.1:n.380+87G>T
XM_006724546.2:c.329+87G>T	XP_006724609.1:n.329+87G>T
XM_006724547.1:c.116+87G>T	XP_006724610.1:n.116+87G>T
XM_011543948.1:c.116+87G>T	XP_011542250.1:n.116+87G>T
XM_024452425.1:c.668+87G>T	XP_024308193.1:n.668+87G>T
NM_001282167.2:c.116+87G>T	NP_001269096.1:n.116+87G>T
NM_022825.4:c.329+87G>T	NP_073736.2:n.329+87G>T
NM_203473.3:c.329+87G>T	NP_982299.1:n.329+87G>T
NM_203475.3:c.329+87G>T MANE Select	NP_982301.1:n.329+87G>T