Canonical Allele Identifier: CA412847051
Community Standard Title: NM_203475.3(PORCN):c.887G>C (p.Arg296Pro)
Gene: PORCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48514566G>C , CM000685.2:g.48514566G>C GRCh38
NC_000023.10:g.48372954G>C , CM000685.1:g.48372954G>C GRCh37
NC_000023.9:g.48257898G>C NCBI36
NG_009278.1:g.10584G>C

Transcript Alleles

HGVS Amino-acid Change
NM_203475.3:c.887G>C MANE Select NP_982301.1:p.Arg296Pro
ENST00000326194.11:c.887G>C MANE Select ENSP00000322304.6:p.Arg296Pro
NM_001282167.1:c.641G>C NP_001269096.1:p.Arg214Pro
NM_001282167.2:c.641G>C NP_001269096.1:p.Arg214Pro
NM_022825.3:c.854G>C NP_073736.2:p.Arg285Pro
NM_022825.4:c.854G>C NP_073736.2:p.Arg285Pro
NM_203473.2:c.872G>C NP_982299.1:p.Arg291Pro
NM_203473.3:c.872G>C NP_982299.1:p.Arg291Pro
NM_203474.1:c.869G>C NP_982300.1:p.Arg290Pro
NM_203475.2:c.887G>C NP_982301.1:p.Arg296Pro
ENST00000326194.10:c.887G>C ENSP00000322304.6:p.Arg296Pro
ENST00000355092.4:c.719G>C ENSP00000347207.4:p.Arg240Pro
ENST00000355961.8:c.872G>C ENSP00000348233.4:p.Arg291Pro
ENST00000359882.8:c.869G>C ENSP00000352946.4:p.Arg290Pro
ENST00000361988.7:c.854G>C ENSP00000354978.3:p.Arg285Pro
ENST00000367574.8:c.869G>C ENSP00000356546.5:p.Arg290Pro
ENST00000367574.9:c.854G>C ENSP00000356546.6:p.Arg285Pro
ENST00000472520.5:c.*195G>C ENSP00000419858.1:n.*195G>C
ENST00000485288.6:c.*522G>C ENSP00000420445.2:n.*522G>C
ENST00000485288.7:c.*522G>C ENSP00000420445.3:n.*522G>C
ENST00000491243.5:n.1283G>C
ENST00000537758.5:c.872G>C ENSP00000446401.2:p.Arg291Pro
ENST00000537758.6:c.854G>C ENSP00000446401.3:p.Arg285Pro
ENST00000682661.1:n.2479G>C
ENST00000683923.1:c.854G>C ENSP00000506737.1:p.Arg285Pro
ENST00000684722.1:n.2441G>C
XM_005272635.1:c.1211G>C XP_005272692.1:p.Arg404Pro
XM_005272636.1:c.1193G>C XP_005272693.1:p.Arg398Pro
XM_005272637.1:c.1139G>C XP_005272694.1:p.Arg380Pro
XM_006724544.2:c.992G>C XP_006724607.1:p.Arg331Pro
XM_006724545.2:c.938G>C XP_006724608.1:p.Arg313Pro
XM_006724546.2:c.887G>C XP_006724609.1:p.Arg296Pro
XM_006724547.1:c.674G>C XP_006724610.1:p.Arg225Pro
XM_011543948.1:c.641G>C XP_011542250.1:p.Arg214Pro
XM_024452425.1:c.1385G>C XP_024308193.1:p.Arg462Pro