Canonical Allele Identifier: CA329067839

Gene: PORCN

Linked Data

• dbSNP Id: rs147571289
• gnomAD v2: X-48369843-A-G
• gnomAD v3: X-48511455-A-G
• gnomAD v4: X-48511455-A-G
• MyVariant Identifiers: chrX:g.48369843A>G (hg19) ; chrX:g.48511455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511455A>G , CM000685.2:g.48511455A>G	GRCh38
NC_000023.10:g.48369843A>G , CM000685.1:g.48369843A>G	GRCh37
NC_000023.9:g.48254787A>G	NCBI36
NG_009278.1:g.7473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.297A>G	ENSP00000356546.6:p.Leu99=
ENST00000537758.6:c.297A>G	ENSP00000446401.3:p.Leu99=
ENST00000682661.1:n.456A>G
ENST00000683923.1:c.297A>G	ENSP00000506737.1:p.Leu99=
ENST00000684722.1:n.479A>G
ENST00000326194.11:c.297A>G MANE Select	ENSP00000322304.6:p.Leu99=
ENST00000485288.7:c.226A>G	ENSP00000420445.3:p.Ile76Val
ENST00000326194.10:c.297A>G	ENSP00000322304.6:p.Leu99=
ENST00000355092.4:c.162A>G	ENSP00000347207.4:p.Leu54=
ENST00000355961.8:c.297A>G	ENSP00000348233.4:p.Leu99=
ENST00000359882.8:c.297A>G	ENSP00000352946.4:p.Leu99=
ENST00000361988.7:c.297A>G	ENSP00000354978.3:p.Leu99=
ENST00000367574.8:c.297A>G	ENSP00000356546.5:p.Leu99=
ENST00000470275.2:c.226A>G	ENSP00000418644.2:p.Ile76Val
ENST00000472520.5:c.137-437A>G	ENSP00000419858.1:n.137-437A>G
ENST00000485288.6:c.418A>G	ENSP00000420445.2:p.Ile140Val
ENST00000491243.5:n.336A>G
ENST00000528612.5:c.226A>G	ENSP00000431224.1:p.Ile76Val
ENST00000537758.5:c.297A>G	ENSP00000446401.2:p.Leu99=
NM_001282167.1:c.84A>G	NP_001269096.1:p.Leu28=
NM_022825.3:c.297A>G	NP_073736.2:p.Leu99=
NM_203473.2:c.297A>G	NP_982299.1:p.Leu99=
NM_203474.1:c.297A>G	NP_982300.1:p.Leu99=
NM_203475.2:c.297A>G	NP_982301.1:p.Leu99=
XM_005272635.1:c.636A>G	XP_005272692.1:p.Leu212=
XM_005272636.1:c.636A>G	XP_005272693.1:p.Leu212=
XM_005272637.1:c.549A>G	XP_005272694.1:p.Leu183=
XM_006724544.2:c.402A>G	XP_006724607.1:p.Leu134=
XM_006724545.2:c.348A>G	XP_006724608.1:p.Leu116=
XM_006724546.2:c.297A>G	XP_006724609.1:p.Leu99=
XM_006724547.1:c.84A>G	XP_006724610.1:p.Leu28=
XM_011543948.1:c.84A>G	XP_011542250.1:p.Leu28=
XM_024452425.1:c.636A>G	XP_024308193.1:p.Leu212=
NM_001282167.2:c.84A>G	NP_001269096.1:p.Leu28=
NM_022825.4:c.297A>G	NP_073736.2:p.Leu99=
NM_203473.3:c.297A>G	NP_982299.1:p.Leu99=
NM_203475.3:c.297A>G MANE Select	NP_982301.1:p.Leu99=