Canonical Allele Identifier: CA16043638

Gene: PORCN

Linked Data

• ClinVar Variation Id: 374245
• ClinVar RCV Id: RCV000414798
• dbSNP Id: rs1057519006
• MyVariant Identifiers: chrX:g.48370986T>C (hg19) ; chrX:g.48512598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48512598T>C , CM000685.2:g.48512598T>C	GRCh38
NC_000023.10:g.48370986T>C , CM000685.1:g.48370986T>C	GRCh37
NC_000023.9:g.48255930T>C	NCBI36
NG_009278.1:g.8616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.565T>C	ENSP00000356546.6:p.Trp189Arg
ENST00000537758.6:c.565T>C	ENSP00000446401.3:p.Trp189Arg
ENST00000682661.1:n.724T>C
ENST00000683923.1:c.565T>C	ENSP00000506737.1:p.Trp189Arg
ENST00000684722.1:n.747T>C
ENST00000326194.11:c.565T>C MANE Select	ENSP00000322304.6:p.Trp189Arg
ENST00000485288.7:c.*233T>C	ENSP00000420445.3:n.*233T>C
ENST00000326194.10:c.565T>C	ENSP00000322304.6:p.Trp189Arg
ENST00000355092.4:c.430T>C	ENSP00000347207.4:p.Trp144Arg
ENST00000355961.8:c.565T>C	ENSP00000348233.4:p.Trp189Arg
ENST00000359882.8:c.565T>C	ENSP00000352946.4:p.Trp189Arg
ENST00000361988.7:c.565T>C	ENSP00000354978.3:p.Trp189Arg
ENST00000367574.8:c.565T>C	ENSP00000356546.5:p.Trp189Arg
ENST00000472520.5:c.*27+663T>C	ENSP00000419858.1:n.*27+663T>C
ENST00000485288.6:c.*233T>C	ENSP00000420445.2:n.*233T>C
ENST00000491243.5:n.994T>C
ENST00000528612.5:c.*233T>C	ENSP00000431224.1:n.*233T>C
ENST00000537758.5:c.565T>C	ENSP00000446401.2:p.Trp189Arg
NM_001282167.1:c.352T>C	NP_001269096.1:p.Trp118Arg
NM_022825.3:c.565T>C	NP_073736.2:p.Trp189Arg
NM_203473.2:c.565T>C	NP_982299.1:p.Trp189Arg
NM_203474.1:c.565T>C	NP_982300.1:p.Trp189Arg
NM_203475.2:c.565T>C	NP_982301.1:p.Trp189Arg
XM_005272635.1:c.904T>C	XP_005272692.1:p.Trp302Arg
XM_005272636.1:c.904T>C	XP_005272693.1:p.Trp302Arg
XM_005272637.1:c.817T>C	XP_005272694.1:p.Trp273Arg
XM_006724544.2:c.670T>C	XP_006724607.1:p.Trp224Arg
XM_006724545.2:c.616T>C	XP_006724608.1:p.Trp206Arg
XM_006724546.2:c.565T>C	XP_006724609.1:p.Trp189Arg
XM_006724547.1:c.352T>C	XP_006724610.1:p.Trp118Arg
XM_011543948.1:c.352T>C	XP_011542250.1:p.Trp118Arg
XM_024452425.1:c.904T>C	XP_024308193.1:p.Trp302Arg
NM_001282167.2:c.352T>C	NP_001269096.1:p.Trp118Arg
NM_022825.4:c.565T>C	NP_073736.2:p.Trp189Arg
NM_203473.3:c.565T>C	NP_982299.1:p.Trp189Arg
NM_203475.3:c.565T>C MANE Select	NP_982301.1:p.Trp189Arg