Canonical Allele Identifier: CA412847038
Community Standard Title: NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)
Gene: PORCN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48514563C>T , CM000685.2:g.48514563C>T GRCh38
NC_000023.10:g.48372951C>T , CM000685.1:g.48372951C>T GRCh37
NC_000023.9:g.48257895C>T NCBI36
NG_009278.1:g.10581C>T

Transcript Alleles

HGVS Amino-acid Change
NM_203475.3:c.884C>T MANE Select NP_982301.1:p.Pro295Leu
ENST00000326194.11:c.884C>T MANE Select ENSP00000322304.6:p.Pro295Leu
NM_001282167.1:c.638C>T NP_001269096.1:p.Pro213Leu
NM_001282167.2:c.638C>T NP_001269096.1:p.Pro213Leu
NM_022825.3:c.851C>T NP_073736.2:p.Pro284Leu
NM_022825.4:c.851C>T NP_073736.2:p.Pro284Leu
NM_203473.2:c.869C>T NP_982299.1:p.Pro290Leu
NM_203473.3:c.869C>T NP_982299.1:p.Pro290Leu
NM_203474.1:c.866C>T NP_982300.1:p.Pro289Leu
NM_203475.2:c.884C>T NP_982301.1:p.Pro295Leu
ENST00000326194.10:c.884C>T ENSP00000322304.6:p.Pro295Leu
ENST00000355092.4:c.716C>T ENSP00000347207.4:p.Pro239Leu
ENST00000355961.8:c.869C>T ENSP00000348233.4:p.Pro290Leu
ENST00000359882.8:c.866C>T ENSP00000352946.4:p.Pro289Leu
ENST00000361988.7:c.851C>T ENSP00000354978.3:p.Pro284Leu
ENST00000367574.8:c.866C>T ENSP00000356546.5:p.Pro289Leu
ENST00000367574.9:c.851C>T ENSP00000356546.6:p.Pro284Leu
ENST00000472520.5:c.*192C>T ENSP00000419858.1:n.*192C>T
ENST00000485288.6:c.*519C>T ENSP00000420445.2:n.*519C>T
ENST00000485288.7:c.*519C>T ENSP00000420445.3:n.*519C>T
ENST00000491243.5:n.1280C>T
ENST00000537758.5:c.869C>T ENSP00000446401.2:p.Pro290Leu
ENST00000537758.6:c.851C>T ENSP00000446401.3:p.Pro284Leu
ENST00000682661.1:n.2476C>T
ENST00000683923.1:c.851C>T ENSP00000506737.1:p.Pro284Leu
ENST00000684722.1:n.2438C>T
XM_005272635.1:c.1208C>T XP_005272692.1:p.Pro403Leu
XM_005272636.1:c.1190C>T XP_005272693.1:p.Pro397Leu
XM_005272637.1:c.1136C>T XP_005272694.1:p.Pro379Leu
XM_006724544.2:c.989C>T XP_006724607.1:p.Pro330Leu
XM_006724545.2:c.935C>T XP_006724608.1:p.Pro312Leu
XM_006724546.2:c.884C>T XP_006724609.1:p.Pro295Leu
XM_006724547.1:c.671C>T XP_006724610.1:p.Pro224Leu
XM_011543948.1:c.638C>T XP_011542250.1:p.Pro213Leu
XM_024452425.1:c.1382C>T XP_024308193.1:p.Pro461Leu