Canonical Allele Identifier: CA412848927

Gene: PORCN

Linked Data

• MyVariant Identifiers: chrX:g.48374458A>T (hg19) ; chrX:g.48516070A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516070A>T , CM000685.2:g.48516070A>T	GRCh38
NC_000023.10:g.48374458A>T , CM000685.1:g.48374458A>T	GRCh37
NC_000023.9:g.48259402A>T	NCBI36
NG_009278.1:g.12088A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1064A>T	ENSP00000356546.6:p.Lys355Met
ENST00000537758.6:c.1064A>T	ENSP00000446401.3:p.Lys355Met
ENST00000682661.1:n.2689A>T
ENST00000683804.1:n.338A>T
ENST00000683923.1:c.1064A>T	ENSP00000506737.1:p.Lys355Met
ENST00000684722.1:n.2651A>T
ENST00000326194.11:c.1097A>T MANE Select	ENSP00000322304.6:p.Lys366Met
ENST00000485288.7:c.*732A>T	ENSP00000420445.3:n.*732A>T
ENST00000326194.10:c.1097A>T	ENSP00000322304.6:p.Lys366Met
ENST00000355092.4:c.929A>T	ENSP00000347207.4:p.Lys310Met
ENST00000355961.8:c.1082A>T	ENSP00000348233.4:p.Lys361Met
ENST00000359882.8:c.1079A>T	ENSP00000352946.4:p.Lys360Met
ENST00000361988.7:c.1064A>T	ENSP00000354978.3:p.Lys355Met
ENST00000367574.8:c.1079A>T	ENSP00000356546.5:p.Lys360Met
ENST00000459953.1:n.426A>T
ENST00000472520.5:c.*405A>T	ENSP00000419858.1:n.*405A>T
ENST00000485288.6:c.*732A>T	ENSP00000420445.2:n.*732A>T
ENST00000491243.5:n.1493A>T
ENST00000537758.5:c.1082A>T	ENSP00000446401.2:p.Lys361Met
NM_001282167.1:c.851A>T	NP_001269096.1:p.Lys284Met
NM_022825.3:c.1064A>T	NP_073736.2:p.Lys355Met
NM_203473.2:c.1082A>T	NP_982299.1:p.Lys361Met
NM_203474.1:c.1079A>T	NP_982300.1:p.Lys360Met
NM_203475.2:c.1097A>T	NP_982301.1:p.Lys366Met
XM_005272635.1:c.1421A>T	XP_005272692.1:p.Lys474Met
XM_005272636.1:c.1403A>T	XP_005272693.1:p.Lys468Met
XM_005272637.1:c.1349A>T	XP_005272694.1:p.Lys450Met
XM_006724544.2:c.1202A>T	XP_006724607.1:p.Lys401Met
XM_006724545.2:c.1148A>T	XP_006724608.1:p.Lys383Met
XM_006724546.2:c.1097A>T	XP_006724609.1:p.Lys366Met
XM_006724547.1:c.884A>T	XP_006724610.1:p.Lys295Met
XM_011543948.1:c.851A>T	XP_011542250.1:p.Lys284Met
XM_024452425.1:c.1595A>T	XP_024308193.1:p.Lys532Met
NM_001282167.2:c.851A>T	NP_001269096.1:p.Lys284Met
NM_022825.4:c.1064A>T	NP_073736.2:p.Lys355Met
NM_203473.3:c.1082A>T	NP_982299.1:p.Lys361Met
NM_203475.3:c.1097A>T MANE Select	NP_982301.1:p.Lys366Met