Canonical Allele Identifier: CA516013344

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48374477C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516089C>A , CM000685.2:g.48516089C>A	GRCh38
NC_000023.10:g.48374477C>A , CM000685.1:g.48374477C>A	GRCh37
NC_000023.9:g.48259421C>A	NCBI36
NG_009278.1:g.12107C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1083C>A	ENSP00000356546.6:p.Leu361=
ENST00000537758.6:c.1083C>A	ENSP00000446401.3:p.Leu361=
ENST00000682661.1:n.2708C>A
ENST00000683804.1:n.357C>A
ENST00000683923.1:c.1083C>A	ENSP00000506737.1:p.Leu361=
ENST00000684722.1:n.2670C>A
ENST00000326194.11:c.1116C>A MANE Select	ENSP00000322304.6:p.Leu372=
ENST00000485288.7:c.*751C>A	ENSP00000420445.3:n.*751C>A
ENST00000326194.10:c.1116C>A	ENSP00000322304.6:p.Leu372=
ENST00000355092.4:c.948C>A	ENSP00000347207.4:p.Leu316=
ENST00000355961.8:c.1101C>A	ENSP00000348233.4:p.Leu367=
ENST00000359882.8:c.1098C>A	ENSP00000352946.4:p.Leu366=
ENST00000361988.7:c.1083C>A	ENSP00000354978.3:p.Leu361=
ENST00000367574.8:c.1098C>A	ENSP00000356546.5:p.Leu366=
ENST00000459953.1:n.445C>A
ENST00000472520.5:c.*424C>A	ENSP00000419858.1:n.*424C>A
ENST00000485288.6:c.*751C>A	ENSP00000420445.2:n.*751C>A
ENST00000491243.5:n.1512C>A
ENST00000537758.5:c.1101C>A	ENSP00000446401.2:p.Leu367=
NM_001282167.1:c.870C>A	NP_001269096.1:p.Leu290=
NM_022825.3:c.1083C>A	NP_073736.2:p.Leu361=
NM_203473.2:c.1101C>A	NP_982299.1:p.Leu367=
NM_203474.1:c.1098C>A	NP_982300.1:p.Leu366=
NM_203475.2:c.1116C>A	NP_982301.1:p.Leu372=
XM_005272635.1:c.1440C>A	XP_005272692.1:p.Leu480=
XM_005272636.1:c.1422C>A	XP_005272693.1:p.Leu474=
XM_005272637.1:c.1368C>A	XP_005272694.1:p.Leu456=
XM_006724544.2:c.1221C>A	XP_006724607.1:p.Leu407=
XM_006724545.2:c.1167C>A	XP_006724608.1:p.Leu389=
XM_006724546.2:c.1116C>A	XP_006724609.1:p.Leu372=
XM_006724547.1:c.903C>A	XP_006724610.1:p.Leu301=
XM_011543948.1:c.870C>A	XP_011542250.1:p.Leu290=
XM_024452425.1:c.1614C>A	XP_024308193.1:p.Leu538=
NM_001282167.2:c.870C>A	NP_001269096.1:p.Leu290=
NM_022825.4:c.1083C>A	NP_073736.2:p.Leu361=
NM_203473.3:c.1101C>A	NP_982299.1:p.Leu367=
NM_203475.3:c.1116C>A MANE Select	NP_982301.1:p.Leu372=