Canonical Allele Identifier: CA412843193

Gene: PORCN

Linked Data

• dbSNP Id: rs1556973881
• gnomAD v2: X-48369845-C-T
• gnomAD v4: X-48511457-C-T
• MyVariant Identifiers: chrX:g.48369845C>T (hg19) ; chrX:g.48511457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48511457C>T , CM000685.2:g.48511457C>T	GRCh38
NC_000023.10:g.48369845C>T , CM000685.1:g.48369845C>T	GRCh37
NC_000023.9:g.48254789C>T	NCBI36
NG_009278.1:g.7475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.299C>T	ENSP00000356546.6:p.Ser100Phe
ENST00000537758.6:c.299C>T	ENSP00000446401.3:p.Ser100Phe
ENST00000682661.1:n.458C>T
ENST00000683923.1:c.299C>T	ENSP00000506737.1:p.Ser100Phe
ENST00000684722.1:n.481C>T
ENST00000326194.11:c.299C>T MANE Select	ENSP00000322304.6:p.Ser100Phe
ENST00000485288.7:c.228C>T	ENSP00000420445.3:p.Ile76=
ENST00000326194.10:c.299C>T	ENSP00000322304.6:p.Ser100Phe
ENST00000355092.4:c.164C>T	ENSP00000347207.4:p.Ser55Phe
ENST00000355961.8:c.299C>T	ENSP00000348233.4:p.Ser100Phe
ENST00000359882.8:c.299C>T	ENSP00000352946.4:p.Ser100Phe
ENST00000361988.7:c.299C>T	ENSP00000354978.3:p.Ser100Phe
ENST00000367574.8:c.299C>T	ENSP00000356546.5:p.Ser100Phe
ENST00000470275.2:c.228C>T	ENSP00000418644.2:p.Ile76=
ENST00000472520.5:c.137-435C>T	ENSP00000419858.1:n.137-435C>T
ENST00000485288.6:c.420C>T	ENSP00000420445.2:p.Ile140=
ENST00000491243.5:n.338C>T
ENST00000528612.5:c.228C>T	ENSP00000431224.1:p.Ile76=
ENST00000537758.5:c.299C>T	ENSP00000446401.2:p.Ser100Phe
NM_001282167.1:c.86C>T	NP_001269096.1:p.Ser29Phe
NM_022825.3:c.299C>T	NP_073736.2:p.Ser100Phe
NM_203473.2:c.299C>T	NP_982299.1:p.Ser100Phe
NM_203474.1:c.299C>T	NP_982300.1:p.Ser100Phe
NM_203475.2:c.299C>T	NP_982301.1:p.Ser100Phe
XM_005272635.1:c.638C>T	XP_005272692.1:p.Ser213Phe
XM_005272636.1:c.638C>T	XP_005272693.1:p.Ser213Phe
XM_005272637.1:c.551C>T	XP_005272694.1:p.Ser184Phe
XM_006724544.2:c.404C>T	XP_006724607.1:p.Ser135Phe
XM_006724545.2:c.350C>T	XP_006724608.1:p.Ser117Phe
XM_006724546.2:c.299C>T	XP_006724609.1:p.Ser100Phe
XM_006724547.1:c.86C>T	XP_006724610.1:p.Ser29Phe
XM_011543948.1:c.86C>T	XP_011542250.1:p.Ser29Phe
XM_024452425.1:c.638C>T	XP_024308193.1:p.Ser213Phe
NM_001282167.2:c.86C>T	NP_001269096.1:p.Ser29Phe
NM_022825.4:c.299C>T	NP_073736.2:p.Ser100Phe
NM_203473.3:c.299C>T	NP_982299.1:p.Ser100Phe
NM_203475.3:c.299C>T MANE Select	NP_982301.1:p.Ser100Phe