Canonical Allele Identifier: CA516009992

Gene: PORCN

Linked Data

• gnomAD v4: X-48511368-G-A
• MyVariant Identifiers: chrX:g.48369756G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511368G>A , CM000685.2:g.48511368G>A	GRCh38
NC_000023.10:g.48369756G>A , CM000685.1:g.48369756G>A	GRCh37
NC_000023.9:g.48254700G>A	NCBI36
NG_009278.1:g.7386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.210G>A	ENSP00000356546.6:p.Leu70=
ENST00000537758.6:c.210G>A	ENSP00000446401.3:p.Leu70=
ENST00000682661.1:n.369G>A
ENST00000683923.1:c.210G>A	ENSP00000506737.1:p.Leu70=
ENST00000684722.1:n.392G>A
ENST00000326194.11:c.210G>A MANE Select	ENSP00000322304.6:p.Leu70=
ENST00000485288.7:c.139G>A	ENSP00000420445.3:p.Ala47Thr
ENST00000326194.10:c.210G>A	ENSP00000322304.6:p.Leu70=
ENST00000355092.4:c.75G>A	ENSP00000347207.4:p.Leu25=
ENST00000355961.8:c.210G>A	ENSP00000348233.4:p.Leu70=
ENST00000359882.8:c.210G>A	ENSP00000352946.4:p.Leu70=
ENST00000361988.7:c.210G>A	ENSP00000354978.3:p.Leu70=
ENST00000367574.8:c.210G>A	ENSP00000356546.5:p.Leu70=
ENST00000470275.2:c.139G>A	ENSP00000418644.2:p.Ala47Thr
ENST00000472520.5:c.137-524G>A	ENSP00000419858.1:n.137-524G>A
ENST00000485288.6:c.331G>A	ENSP00000420445.2:p.Ala111Thr
ENST00000486272.1:n.560G>A
ENST00000489940.5:c.210G>A	ENSP00000419212.1:p.Leu70=
ENST00000491243.5:n.249G>A
ENST00000528612.5:c.139G>A	ENSP00000431224.1:p.Ala47Thr
ENST00000537758.5:c.210G>A	ENSP00000446401.2:p.Leu70=
NM_001282167.1:c.-4G>A	NP_001269096.1:n.-4G>A
NM_022825.3:c.210G>A	NP_073736.2:p.Leu70=
NM_203473.2:c.210G>A	NP_982299.1:p.Leu70=
NM_203474.1:c.210G>A	NP_982300.1:p.Leu70=
NM_203475.2:c.210G>A	NP_982301.1:p.Leu70=
XM_005272635.1:c.549G>A	XP_005272692.1:p.Leu183=
XM_005272636.1:c.549G>A	XP_005272693.1:p.Leu183=
XM_005272637.1:c.462G>A	XP_005272694.1:p.Leu154=
XM_006724544.2:c.315G>A	XP_006724607.1:p.Leu105=
XM_006724545.2:c.261G>A	XP_006724608.1:p.Leu87=
XM_006724546.2:c.210G>A	XP_006724609.1:p.Leu70=
XM_006724547.1:c.-4G>A	XP_006724610.1:n.-4G>A
XM_011543948.1:c.-4G>A	XP_011542250.1:n.-4G>A
XM_024452425.1:c.549G>A	XP_024308193.1:p.Leu183=
NM_001282167.2:c.-4G>A	NP_001269096.1:n.-4G>A
NM_022825.4:c.210G>A	NP_073736.2:p.Leu70=
NM_203473.3:c.210G>A	NP_982299.1:p.Leu70=
NM_203475.3:c.210G>A MANE Select	NP_982301.1:p.Leu70=