Canonical Allele Identifier: CA412848929

Gene: PORCN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1064A>C	ENSP00000356546.6:p.Lys355Thr
ENST00000537758.6:c.1064A>C	ENSP00000446401.3:p.Lys355Thr
ENST00000682661.1:n.2689A>C
ENST00000683804.1:n.338A>C
ENST00000683923.1:c.1064A>C	ENSP00000506737.1:p.Lys355Thr
ENST00000684722.1:n.2651A>C
ENST00000326194.11:c.1097A>C MANE Select	ENSP00000322304.6:p.Lys366Thr
ENST00000485288.7:c.*732A>C	ENSP00000420445.3:n.*732A>C
ENST00000326194.10:c.1097A>C	ENSP00000322304.6:p.Lys366Thr
ENST00000355092.4:c.929A>C	ENSP00000347207.4:p.Lys310Thr
ENST00000355961.8:c.1082A>C	ENSP00000348233.4:p.Lys361Thr
ENST00000359882.8:c.1079A>C	ENSP00000352946.4:p.Lys360Thr
ENST00000361988.7:c.1064A>C	ENSP00000354978.3:p.Lys355Thr
ENST00000367574.8:c.1079A>C	ENSP00000356546.5:p.Lys360Thr
ENST00000459953.1:n.426A>C
ENST00000472520.5:c.*405A>C	ENSP00000419858.1:n.*405A>C
ENST00000485288.6:c.*732A>C	ENSP00000420445.2:n.*732A>C
ENST00000491243.5:n.1493A>C
ENST00000537758.5:c.1082A>C	ENSP00000446401.2:p.Lys361Thr
NM_001282167.1:c.851A>C	NP_001269096.1:p.Lys284Thr
NM_022825.3:c.1064A>C	NP_073736.2:p.Lys355Thr
NM_203473.2:c.1082A>C	NP_982299.1:p.Lys361Thr
NM_203474.1:c.1079A>C	NP_982300.1:p.Lys360Thr
NM_203475.2:c.1097A>C	NP_982301.1:p.Lys366Thr
XM_005272635.1:c.1421A>C	XP_005272692.1:p.Lys474Thr
XM_005272636.1:c.1403A>C	XP_005272693.1:p.Lys468Thr
XM_005272637.1:c.1349A>C	XP_005272694.1:p.Lys450Thr
XM_006724544.2:c.1202A>C	XP_006724607.1:p.Lys401Thr
XM_006724545.2:c.1148A>C	XP_006724608.1:p.Lys383Thr
XM_006724546.2:c.1097A>C	XP_006724609.1:p.Lys366Thr
XM_006724547.1:c.884A>C	XP_006724610.1:p.Lys295Thr
XM_011543948.1:c.851A>C	XP_011542250.1:p.Lys284Thr
XM_024452425.1:c.1595A>C	XP_024308193.1:p.Lys532Thr
NM_001282167.2:c.851A>C	NP_001269096.1:p.Lys284Thr
NM_022825.4:c.1064A>C	NP_073736.2:p.Lys355Thr
NM_203473.3:c.1082A>C	NP_982299.1:p.Lys361Thr
NM_203475.3:c.1097A>C MANE Select	NP_982301.1:p.Lys366Thr