Canonical Allele Identifier: CA516010090

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48369775C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511387C>T , CM000685.2:g.48511387C>T	GRCh38
NC_000023.10:g.48369775C>T , CM000685.1:g.48369775C>T	GRCh37
NC_000023.9:g.48254719C>T	NCBI36
NG_009278.1:g.7405C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.229C>T	ENSP00000356546.6:p.Leu77=
ENST00000537758.6:c.229C>T	ENSP00000446401.3:p.Leu77=
ENST00000682661.1:n.388C>T
ENST00000683923.1:c.229C>T	ENSP00000506737.1:p.Leu77=
ENST00000684722.1:n.411C>T
ENST00000326194.11:c.229C>T MANE Select	ENSP00000322304.6:p.Leu77=
ENST00000485288.7:c.158C>T	ENSP00000420445.3:p.Ala53Val
ENST00000326194.10:c.229C>T	ENSP00000322304.6:p.Leu77=
ENST00000355092.4:c.94C>T	ENSP00000347207.4:p.Leu32=
ENST00000355961.8:c.229C>T	ENSP00000348233.4:p.Leu77=
ENST00000359882.8:c.229C>T	ENSP00000352946.4:p.Leu77=
ENST00000361988.7:c.229C>T	ENSP00000354978.3:p.Leu77=
ENST00000367574.8:c.229C>T	ENSP00000356546.5:p.Leu77=
ENST00000470275.2:c.158C>T	ENSP00000418644.2:p.Ala53Val
ENST00000472520.5:c.137-505C>T	ENSP00000419858.1:n.137-505C>T
ENST00000485288.6:c.350C>T	ENSP00000420445.2:p.Ala117Val
ENST00000489940.5:c.229C>T	ENSP00000419212.1:p.Leu77=
ENST00000491243.5:n.268C>T
ENST00000528612.5:c.158C>T	ENSP00000431224.1:p.Ala53Val
ENST00000537758.5:c.229C>T	ENSP00000446401.2:p.Leu77=
NM_001282167.1:c.16C>T	NP_001269096.1:p.Leu6=
NM_022825.3:c.229C>T	NP_073736.2:p.Leu77=
NM_203473.2:c.229C>T	NP_982299.1:p.Leu77=
NM_203474.1:c.229C>T	NP_982300.1:p.Leu77=
NM_203475.2:c.229C>T	NP_982301.1:p.Leu77=
XM_005272635.1:c.568C>T	XP_005272692.1:p.Leu190=
XM_005272636.1:c.568C>T	XP_005272693.1:p.Leu190=
XM_005272637.1:c.481C>T	XP_005272694.1:p.Leu161=
XM_006724544.2:c.334C>T	XP_006724607.1:p.Leu112=
XM_006724545.2:c.280C>T	XP_006724608.1:p.Leu94=
XM_006724546.2:c.229C>T	XP_006724609.1:p.Leu77=
XM_006724547.1:c.16C>T	XP_006724610.1:p.Leu6=
XM_011543948.1:c.16C>T	XP_011542250.1:p.Leu6=
XM_024452425.1:c.568C>T	XP_024308193.1:p.Leu190=
NM_001282167.2:c.16C>T	NP_001269096.1:p.Leu6=
NM_022825.4:c.229C>T	NP_073736.2:p.Leu77=
NM_203473.3:c.229C>T	NP_982299.1:p.Leu77=
NM_203475.3:c.229C>T MANE Select	NP_982301.1:p.Leu77=