Canonical Allele Identifier: CA412849015

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48374481G>T (hg19) ; chrX:g.48516093G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516093G>T , CM000685.2:g.48516093G>T	GRCh38
NC_000023.10:g.48374481G>T , CM000685.1:g.48374481G>T	GRCh37
NC_000023.9:g.48259425G>T	NCBI36
NG_009278.1:g.12111G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1087G>T	ENSP00000356546.6:p.Ala363Ser
ENST00000537758.6:c.1087G>T	ENSP00000446401.3:p.Ala363Ser
ENST00000682661.1:n.2712G>T
ENST00000683804.1:n.361G>T
ENST00000683923.1:c.1087G>T	ENSP00000506737.1:p.Ala363Ser
ENST00000684722.1:n.2674G>T
ENST00000326194.11:c.1120G>T MANE Select	ENSP00000322304.6:p.Ala374Ser
ENST00000485288.7:c.*755G>T	ENSP00000420445.3:n.*755G>T
ENST00000326194.10:c.1120G>T	ENSP00000322304.6:p.Ala374Ser
ENST00000355092.4:c.952G>T	ENSP00000347207.4:p.Ala318Ser
ENST00000355961.8:c.1105G>T	ENSP00000348233.4:p.Ala369Ser
ENST00000359882.8:c.1102G>T	ENSP00000352946.4:p.Ala368Ser
ENST00000361988.7:c.1087G>T	ENSP00000354978.3:p.Ala363Ser
ENST00000367574.8:c.1102G>T	ENSP00000356546.5:p.Ala368Ser
ENST00000459953.1:n.449G>T
ENST00000472520.5:c.*428G>T	ENSP00000419858.1:n.*428G>T
ENST00000485288.6:c.*755G>T	ENSP00000420445.2:n.*755G>T
ENST00000491243.5:n.1516G>T
ENST00000537758.5:c.1105G>T	ENSP00000446401.2:p.Ala369Ser
NM_001282167.1:c.874G>T	NP_001269096.1:p.Ala292Ser
NM_022825.3:c.1087G>T	NP_073736.2:p.Ala363Ser
NM_203473.2:c.1105G>T	NP_982299.1:p.Ala369Ser
NM_203474.1:c.1102G>T	NP_982300.1:p.Ala368Ser
NM_203475.2:c.1120G>T	NP_982301.1:p.Ala374Ser
XM_005272635.1:c.1444G>T	XP_005272692.1:p.Ala482Ser
XM_005272636.1:c.1426G>T	XP_005272693.1:p.Ala476Ser
XM_005272637.1:c.1372G>T	XP_005272694.1:p.Ala458Ser
XM_006724544.2:c.1225G>T	XP_006724607.1:p.Ala409Ser
XM_006724545.2:c.1171G>T	XP_006724608.1:p.Ala391Ser
XM_006724546.2:c.1120G>T	XP_006724609.1:p.Ala374Ser
XM_006724547.1:c.907G>T	XP_006724610.1:p.Ala303Ser
XM_011543948.1:c.874G>T	XP_011542250.1:p.Ala292Ser
XM_024452425.1:c.1618G>T	XP_024308193.1:p.Ala540Ser
NM_001282167.2:c.874G>T	NP_001269096.1:p.Ala292Ser
NM_022825.4:c.1087G>T	NP_073736.2:p.Ala363Ser
NM_203473.3:c.1105G>T	NP_982299.1:p.Ala369Ser
NM_203475.3:c.1120G>T MANE Select	NP_982301.1:p.Ala374Ser