Canonical Allele Identifier: CA412843115

Gene: PORCN

Linked Data

• gnomAD v4: X-48511442-G-C
• MyVariant Identifiers: chrX:g.48369830G>C (hg19) ; chrX:g.48511442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511442G>C , CM000685.2:g.48511442G>C	GRCh38
NC_000023.10:g.48369830G>C , CM000685.1:g.48369830G>C	GRCh37
NC_000023.9:g.48254774G>C	NCBI36
NG_009278.1:g.7460G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.284G>C	ENSP00000356546.6:p.Arg95Pro
ENST00000537758.6:c.284G>C	ENSP00000446401.3:p.Arg95Pro
ENST00000682661.1:n.443G>C
ENST00000683923.1:c.284G>C	ENSP00000506737.1:p.Arg95Pro
ENST00000684722.1:n.466G>C
ENST00000326194.11:c.284G>C MANE Select	ENSP00000322304.6:p.Arg95Pro
ENST00000485288.7:c.213G>C	ENSP00000420445.3:p.Ser71=
ENST00000326194.10:c.284G>C	ENSP00000322304.6:p.Arg95Pro
ENST00000355092.4:c.149G>C	ENSP00000347207.4:p.Arg50Pro
ENST00000355961.8:c.284G>C	ENSP00000348233.4:p.Arg95Pro
ENST00000359882.8:c.284G>C	ENSP00000352946.4:p.Arg95Pro
ENST00000361988.7:c.284G>C	ENSP00000354978.3:p.Arg95Pro
ENST00000367574.8:c.284G>C	ENSP00000356546.5:p.Arg95Pro
ENST00000470275.2:c.213G>C	ENSP00000418644.2:p.Ser71=
ENST00000472520.5:c.137-450G>C	ENSP00000419858.1:n.137-450G>C
ENST00000485288.6:c.405G>C	ENSP00000420445.2:p.Ser135=
ENST00000489940.5:c.284G>C	ENSP00000419212.1:p.Arg95Pro
ENST00000491243.5:n.323G>C
ENST00000528612.5:c.213G>C	ENSP00000431224.1:p.Ser71=
ENST00000537758.5:c.284G>C	ENSP00000446401.2:p.Arg95Pro
NM_001282167.1:c.71G>C	NP_001269096.1:p.Arg24Pro
NM_022825.3:c.284G>C	NP_073736.2:p.Arg95Pro
NM_203473.2:c.284G>C	NP_982299.1:p.Arg95Pro
NM_203474.1:c.284G>C	NP_982300.1:p.Arg95Pro
NM_203475.2:c.284G>C	NP_982301.1:p.Arg95Pro
XM_005272635.1:c.623G>C	XP_005272692.1:p.Arg208Pro
XM_005272636.1:c.623G>C	XP_005272693.1:p.Arg208Pro
XM_005272637.1:c.536G>C	XP_005272694.1:p.Arg179Pro
XM_006724544.2:c.389G>C	XP_006724607.1:p.Arg130Pro
XM_006724545.2:c.335G>C	XP_006724608.1:p.Arg112Pro
XM_006724546.2:c.284G>C	XP_006724609.1:p.Arg95Pro
XM_006724547.1:c.71G>C	XP_006724610.1:p.Arg24Pro
XM_011543948.1:c.71G>C	XP_011542250.1:p.Arg24Pro
XM_024452425.1:c.623G>C	XP_024308193.1:p.Arg208Pro
NM_001282167.2:c.71G>C	NP_001269096.1:p.Arg24Pro
NM_022825.4:c.284G>C	NP_073736.2:p.Arg95Pro
NM_203473.3:c.284G>C	NP_982299.1:p.Arg95Pro
NM_203475.3:c.284G>C MANE Select	NP_982301.1:p.Arg95Pro