Canonical Allele Identifier: CA412842010

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48369764T>C (hg19) ; chrX:g.48511376T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511376T>C , CM000685.2:g.48511376T>C	GRCh38
NC_000023.10:g.48369764T>C , CM000685.1:g.48369764T>C	GRCh37
NC_000023.9:g.48254708T>C	NCBI36
NG_009278.1:g.7394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.218T>C	ENSP00000356546.6:p.Val73Ala
ENST00000537758.6:c.218T>C	ENSP00000446401.3:p.Val73Ala
ENST00000682661.1:n.377T>C
ENST00000683923.1:c.218T>C	ENSP00000506737.1:p.Val73Ala
ENST00000684722.1:n.400T>C
ENST00000326194.11:c.218T>C MANE Select	ENSP00000322304.6:p.Val73Ala
ENST00000485288.7:c.147T>C	ENSP00000420445.3:p.Gly49=
ENST00000326194.10:c.218T>C	ENSP00000322304.6:p.Val73Ala
ENST00000355092.4:c.83T>C	ENSP00000347207.4:p.Val28Ala
ENST00000355961.8:c.218T>C	ENSP00000348233.4:p.Val73Ala
ENST00000359882.8:c.218T>C	ENSP00000352946.4:p.Val73Ala
ENST00000361988.7:c.218T>C	ENSP00000354978.3:p.Val73Ala
ENST00000367574.8:c.218T>C	ENSP00000356546.5:p.Val73Ala
ENST00000470275.2:c.147T>C	ENSP00000418644.2:p.Gly49=
ENST00000472520.5:c.137-516T>C	ENSP00000419858.1:n.137-516T>C
ENST00000485288.6:c.339T>C	ENSP00000420445.2:p.Gly113=
ENST00000489940.5:c.218T>C	ENSP00000419212.1:p.Val73Ala
ENST00000491243.5:n.257T>C
ENST00000528612.5:c.147T>C	ENSP00000431224.1:p.Gly49=
ENST00000537758.5:c.218T>C	ENSP00000446401.2:p.Val73Ala
NM_001282167.1:c.5T>C	NP_001269096.1:p.Val2Ala
NM_022825.3:c.218T>C	NP_073736.2:p.Val73Ala
NM_203473.2:c.218T>C	NP_982299.1:p.Val73Ala
NM_203474.1:c.218T>C	NP_982300.1:p.Val73Ala
NM_203475.2:c.218T>C	NP_982301.1:p.Val73Ala
XM_005272635.1:c.557T>C	XP_005272692.1:p.Val186Ala
XM_005272636.1:c.557T>C	XP_005272693.1:p.Val186Ala
XM_005272637.1:c.470T>C	XP_005272694.1:p.Val157Ala
XM_006724544.2:c.323T>C	XP_006724607.1:p.Val108Ala
XM_006724545.2:c.269T>C	XP_006724608.1:p.Val90Ala
XM_006724546.2:c.218T>C	XP_006724609.1:p.Val73Ala
XM_006724547.1:c.5T>C	XP_006724610.1:p.Val2Ala
XM_011543948.1:c.5T>C	XP_011542250.1:p.Val2Ala
XM_024452425.1:c.557T>C	XP_024308193.1:p.Val186Ala
NM_001282167.2:c.5T>C	NP_001269096.1:p.Val2Ala
NM_022825.4:c.218T>C	NP_073736.2:p.Val73Ala
NM_203473.3:c.218T>C	NP_982299.1:p.Val73Ala
NM_203475.3:c.218T>C MANE Select	NP_982301.1:p.Val73Ala