Canonical Allele Identifier: CA412846398
Community Standard Title: NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)
Gene: PORCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48514302T>C , CM000685.2:g.48514302T>C GRCh38
NC_000023.10:g.48372690T>C , CM000685.1:g.48372690T>C GRCh37
NC_000023.9:g.48257634T>C NCBI36
NG_009278.1:g.10320T>C

Transcript Alleles

HGVS Amino-acid Change
NM_203475.3:c.782T>C MANE Select NP_982301.1:p.Leu261Pro
ENST00000326194.11:c.782T>C MANE Select ENSP00000322304.6:p.Leu261Pro
NM_001282167.1:c.536T>C NP_001269096.1:p.Leu179Pro
NM_001282167.2:c.536T>C NP_001269096.1:p.Leu179Pro
NM_022825.3:c.749T>C NP_073736.2:p.Leu250Pro
NM_022825.4:c.749T>C NP_073736.2:p.Leu250Pro
NM_203473.2:c.767T>C NP_982299.1:p.Leu256Pro
NM_203473.3:c.767T>C NP_982299.1:p.Leu256Pro
NM_203474.1:c.764T>C NP_982300.1:p.Leu255Pro
NM_203475.2:c.782T>C NP_982301.1:p.Leu261Pro
ENST00000326194.10:c.782T>C ENSP00000322304.6:p.Leu261Pro
ENST00000355092.4:c.614T>C ENSP00000347207.4:p.Leu205Pro
ENST00000355961.8:c.767T>C ENSP00000348233.4:p.Leu256Pro
ENST00000359882.8:c.764T>C ENSP00000352946.4:p.Leu255Pro
ENST00000361988.7:c.749T>C ENSP00000354978.3:p.Leu250Pro
ENST00000367574.8:c.764T>C ENSP00000356546.5:p.Leu255Pro
ENST00000367574.9:c.749T>C ENSP00000356546.6:p.Leu250Pro
ENST00000472520.5:c.*90T>C ENSP00000419858.1:n.*90T>C
ENST00000485288.6:c.*417T>C ENSP00000420445.2:n.*417T>C
ENST00000485288.7:c.*417T>C ENSP00000420445.3:n.*417T>C
ENST00000491243.5:n.1178T>C
ENST00000537758.5:c.767T>C ENSP00000446401.2:p.Leu256Pro
ENST00000537758.6:c.749T>C ENSP00000446401.3:p.Leu250Pro
ENST00000682661.1:n.2215T>C
ENST00000683923.1:c.749T>C ENSP00000506737.1:p.Leu250Pro
ENST00000684722.1:n.2336T>C
XM_005272635.1:c.1106T>C XP_005272692.1:p.Leu369Pro
XM_005272636.1:c.1088T>C XP_005272693.1:p.Leu363Pro
XM_005272637.1:c.1034T>C XP_005272694.1:p.Leu345Pro
XM_006724544.2:c.887T>C XP_006724607.1:p.Leu296Pro
XM_006724545.2:c.833T>C XP_006724608.1:p.Leu278Pro
XM_006724546.2:c.782T>C XP_006724609.1:p.Leu261Pro
XM_006724547.1:c.569T>C XP_006724610.1:p.Leu190Pro
XM_011543948.1:c.536T>C XP_011542250.1:p.Leu179Pro
XM_024452425.1:c.1121T>C XP_024308193.1:p.Leu374Pro