Canonical Allele Identifier: CA516013338

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48374471G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516083G>C , CM000685.2:g.48516083G>C	GRCh38
NC_000023.10:g.48374471G>C , CM000685.1:g.48374471G>C	GRCh37
NC_000023.9:g.48259415G>C	NCBI36
NG_009278.1:g.12101G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1077G>C	ENSP00000356546.6:p.Arg359=
ENST00000537758.6:c.1077G>C	ENSP00000446401.3:p.Arg359=
ENST00000682661.1:n.2702G>C
ENST00000683804.1:n.351G>C
ENST00000683923.1:c.1077G>C	ENSP00000506737.1:p.Arg359=
ENST00000684722.1:n.2664G>C
ENST00000326194.11:c.1110G>C MANE Select	ENSP00000322304.6:p.Arg370=
ENST00000485288.7:c.*745G>C	ENSP00000420445.3:n.*745G>C
ENST00000326194.10:c.1110G>C	ENSP00000322304.6:p.Arg370=
ENST00000355092.4:c.942G>C	ENSP00000347207.4:p.Arg314=
ENST00000355961.8:c.1095G>C	ENSP00000348233.4:p.Arg365=
ENST00000359882.8:c.1092G>C	ENSP00000352946.4:p.Arg364=
ENST00000361988.7:c.1077G>C	ENSP00000354978.3:p.Arg359=
ENST00000367574.8:c.1092G>C	ENSP00000356546.5:p.Arg364=
ENST00000459953.1:n.439G>C
ENST00000472520.5:c.*418G>C	ENSP00000419858.1:n.*418G>C
ENST00000485288.6:c.*745G>C	ENSP00000420445.2:n.*745G>C
ENST00000491243.5:n.1506G>C
ENST00000537758.5:c.1095G>C	ENSP00000446401.2:p.Arg365=
NM_001282167.1:c.864G>C	NP_001269096.1:p.Arg288=
NM_022825.3:c.1077G>C	NP_073736.2:p.Arg359=
NM_203473.2:c.1095G>C	NP_982299.1:p.Arg365=
NM_203474.1:c.1092G>C	NP_982300.1:p.Arg364=
NM_203475.2:c.1110G>C	NP_982301.1:p.Arg370=
XM_005272635.1:c.1434G>C	XP_005272692.1:p.Arg478=
XM_005272636.1:c.1416G>C	XP_005272693.1:p.Arg472=
XM_005272637.1:c.1362G>C	XP_005272694.1:p.Arg454=
XM_006724544.2:c.1215G>C	XP_006724607.1:p.Arg405=
XM_006724545.2:c.1161G>C	XP_006724608.1:p.Arg387=
XM_006724546.2:c.1110G>C	XP_006724609.1:p.Arg370=
XM_006724547.1:c.897G>C	XP_006724610.1:p.Arg299=
XM_011543948.1:c.864G>C	XP_011542250.1:p.Arg288=
XM_024452425.1:c.1608G>C	XP_024308193.1:p.Arg536=
NM_001282167.2:c.864G>C	NP_001269096.1:p.Arg288=
NM_022825.4:c.1077G>C	NP_073736.2:p.Arg359=
NM_203473.3:c.1095G>C	NP_982299.1:p.Arg365=
NM_203475.3:c.1110G>C MANE Select	NP_982301.1:p.Arg370=