Canonical Allele Identifier: CA412843291

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48369865C>G (hg19) ; chrX:g.48511477C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511477C>G , CM000685.2:g.48511477C>G	GRCh38
NC_000023.10:g.48369865C>G , CM000685.1:g.48369865C>G	GRCh37
NC_000023.9:g.48254809C>G	NCBI36
NG_009278.1:g.7495C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.319C>G	ENSP00000356546.6:p.Leu107Val
ENST00000537758.6:c.319C>G	ENSP00000446401.3:p.Leu107Val
ENST00000682661.1:n.478C>G
ENST00000683923.1:c.319C>G	ENSP00000506737.1:p.Leu107Val
ENST00000684722.1:n.501C>G
ENST00000326194.11:c.319C>G MANE Select	ENSP00000322304.6:p.Leu107Val
ENST00000485288.7:c.248C>G	ENSP00000420445.3:p.Pro83Arg
ENST00000326194.10:c.319C>G	ENSP00000322304.6:p.Leu107Val
ENST00000355092.4:c.184C>G	ENSP00000347207.4:p.Leu62Val
ENST00000355961.8:c.319C>G	ENSP00000348233.4:p.Leu107Val
ENST00000359882.8:c.319C>G	ENSP00000352946.4:p.Leu107Val
ENST00000361988.7:c.319C>G	ENSP00000354978.3:p.Leu107Val
ENST00000367574.8:c.319C>G	ENSP00000356546.5:p.Leu107Val
ENST00000470275.2:c.248C>G	ENSP00000418644.2:p.Pro83Arg
ENST00000472520.5:c.137-415C>G	ENSP00000419858.1:n.137-415C>G
ENST00000485288.6:c.440C>G	ENSP00000420445.2:p.Pro147Arg
ENST00000491243.5:n.358C>G
ENST00000528612.5:c.248C>G	ENSP00000431224.1:p.Pro83Arg
ENST00000537758.5:c.319C>G	ENSP00000446401.2:p.Leu107Val
NM_001282167.1:c.106C>G	NP_001269096.1:p.Leu36Val
NM_022825.3:c.319C>G	NP_073736.2:p.Leu107Val
NM_203473.2:c.319C>G	NP_982299.1:p.Leu107Val
NM_203474.1:c.319C>G	NP_982300.1:p.Leu107Val
NM_203475.2:c.319C>G	NP_982301.1:p.Leu107Val
XM_005272635.1:c.658C>G	XP_005272692.1:p.Leu220Val
XM_005272636.1:c.658C>G	XP_005272693.1:p.Leu220Val
XM_005272637.1:c.571C>G	XP_005272694.1:p.Leu191Val
XM_006724544.2:c.424C>G	XP_006724607.1:p.Leu142Val
XM_006724545.2:c.370C>G	XP_006724608.1:p.Leu124Val
XM_006724546.2:c.319C>G	XP_006724609.1:p.Leu107Val
XM_006724547.1:c.106C>G	XP_006724610.1:p.Leu36Val
XM_011543948.1:c.106C>G	XP_011542250.1:p.Leu36Val
XM_024452425.1:c.658C>G	XP_024308193.1:p.Leu220Val
NM_001282167.2:c.106C>G	NP_001269096.1:p.Leu36Val
NM_022825.4:c.319C>G	NP_073736.2:p.Leu107Val
NM_203473.3:c.319C>G	NP_982299.1:p.Leu107Val
NM_203475.3:c.319C>G MANE Select	NP_982301.1:p.Leu107Val