Canonical Allele Identifier: CA255495

Gene: PORCN

Linked Data

• ClinVar Variation Id: 10703
• ClinVar RCV Id: RCV000011449 ; RCV003234900
• dbSNP Id: rs137852219
• MyVariant Identifiers: chrX:g.48369768G>A (hg19) ; chrX:g.48511380G>A (hg38)
• PubMed: PMID:17546031

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511380G>A , CM000685.2:g.48511380G>A	GRCh38
NC_000023.10:g.48369768G>A , CM000685.1:g.48369768G>A	GRCh37
NC_000023.9:g.48254712G>A	NCBI36
NG_009278.1:g.7398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.222G>A	ENSP00000356546.6:p.Trp74Ter
ENST00000537758.6:c.222G>A	ENSP00000446401.3:p.Trp74Ter
ENST00000682661.1:n.381G>A
ENST00000683923.1:c.222G>A	ENSP00000506737.1:p.Trp74Ter
ENST00000684722.1:n.404G>A
ENST00000326194.11:c.222G>A MANE Select	ENSP00000322304.6:p.Trp74Ter
ENST00000485288.7:c.151G>A	ENSP00000420445.3:p.Gly51Ser
ENST00000326194.10:c.222G>A	ENSP00000322304.6:p.Trp74Ter
ENST00000355092.4:c.87G>A	ENSP00000347207.4:p.Trp29Ter
ENST00000355961.8:c.222G>A	ENSP00000348233.4:p.Trp74Ter
ENST00000359882.8:c.222G>A	ENSP00000352946.4:p.Trp74Ter
ENST00000361988.7:c.222G>A	ENSP00000354978.3:p.Trp74Ter
ENST00000367574.8:c.222G>A	ENSP00000356546.5:p.Trp74Ter
ENST00000470275.2:c.151G>A	ENSP00000418644.2:p.Gly51Ser
ENST00000472520.5:c.137-512G>A	ENSP00000419858.1:n.137-512G>A
ENST00000485288.6:c.343G>A	ENSP00000420445.2:p.Gly115Ser
ENST00000489940.5:c.222G>A	ENSP00000419212.1:p.Trp74Ter
ENST00000491243.5:n.261G>A
ENST00000528612.5:c.151G>A	ENSP00000431224.1:p.Gly51Ser
ENST00000537758.5:c.222G>A	ENSP00000446401.2:p.Trp74Ter
NM_001282167.1:c.9G>A	NP_001269096.1:p.Trp3Ter
NM_022825.3:c.222G>A	NP_073736.2:p.Trp74Ter
NM_203473.2:c.222G>A	NP_982299.1:p.Trp74Ter
NM_203474.1:c.222G>A	NP_982300.1:p.Trp74Ter
NM_203475.2:c.222G>A	NP_982301.1:p.Trp74Ter
XM_005272635.1:c.561G>A	XP_005272692.1:p.Trp187Ter
XM_005272636.1:c.561G>A	XP_005272693.1:p.Trp187Ter
XM_005272637.1:c.474G>A	XP_005272694.1:p.Trp158Ter
XM_006724544.2:c.327G>A	XP_006724607.1:p.Trp109Ter
XM_006724545.2:c.273G>A	XP_006724608.1:p.Trp91Ter
XM_006724546.2:c.222G>A	XP_006724609.1:p.Trp74Ter
XM_006724547.1:c.9G>A	XP_006724610.1:p.Trp3Ter
XM_011543948.1:c.9G>A	XP_011542250.1:p.Trp3Ter
XM_024452425.1:c.561G>A	XP_024308193.1:p.Trp187Ter
NM_001282167.2:c.9G>A	NP_001269096.1:p.Trp3Ter
NM_022825.4:c.222G>A	NP_073736.2:p.Trp74Ter
NM_203473.3:c.222G>A	NP_982299.1:p.Trp74Ter
NM_203475.3:c.222G>A MANE Select	NP_982301.1:p.Trp74Ter