Canonical Allele Identifier: CA16621413
Gene: PORCN HGNC NCBI

Linked Data

ClinVar Variation Id: 421875
ClinVar RCV Id: RCV000486452
dbSNP Id: rs1064795419
MyVariant Identifiers: chrX:g.48374494C>T (hg19) chrX:g.48516106C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48516106C>T , CM000685.2:g.48516106C>T GRCh38
NC_000023.10:g.48374494C>T , CM000685.1:g.48374494C>T GRCh37
NC_000023.9:g.48259438C>T NCBI36
NG_009278.1:g.12124C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000367574.9:c.1100C>T ENSP00000356546.6:p.Ser367Leu
ENST00000537758.6:c.1100C>T ENSP00000446401.3:p.Ser367Leu
ENST00000682661.1:n.2725C>T
ENST00000683804.1:n.374C>T
ENST00000683923.1:c.1100C>T ENSP00000506737.1:p.Ser367Leu
ENST00000684722.1:n.2687C>T
ENST00000326194.11:c.1133C>T MANE Select ENSP00000322304.6:p.Ser378Leu
ENST00000485288.7:c.*768C>T ENSP00000420445.3:n.*768C>T
ENST00000326194.10:c.1133C>T ENSP00000322304.6:p.Ser378Leu
ENST00000355092.4:c.965C>T ENSP00000347207.4:p.Ser322Leu
ENST00000355961.8:c.1118C>T ENSP00000348233.4:p.Ser373Leu
ENST00000359882.8:c.1115C>T ENSP00000352946.4:p.Ser372Leu
ENST00000361988.7:c.1100C>T ENSP00000354978.3:p.Ser367Leu
ENST00000367574.8:c.1115C>T ENSP00000356546.5:p.Ser372Leu
ENST00000459953.1:n.462C>T
ENST00000472520.5:c.*441C>T ENSP00000419858.1:n.*441C>T
ENST00000485288.6:c.*768C>T ENSP00000420445.2:n.*768C>T
ENST00000491243.5:n.1529C>T
ENST00000537758.5:c.1118C>T ENSP00000446401.2:p.Ser373Leu
NM_001282167.1:c.887C>T NP_001269096.1:p.Ser296Leu
NM_022825.3:c.1100C>T NP_073736.2:p.Ser367Leu
NM_203473.2:c.1118C>T NP_982299.1:p.Ser373Leu
NM_203474.1:c.1115C>T NP_982300.1:p.Ser372Leu
NM_203475.2:c.1133C>T NP_982301.1:p.Ser378Leu
XM_005272635.1:c.1457C>T XP_005272692.1:p.Ser486Leu
XM_005272636.1:c.1439C>T XP_005272693.1:p.Ser480Leu
XM_005272637.1:c.1385C>T XP_005272694.1:p.Ser462Leu
XM_006724544.2:c.1238C>T XP_006724607.1:p.Ser413Leu
XM_006724545.2:c.1184C>T XP_006724608.1:p.Ser395Leu
XM_006724546.2:c.1133C>T XP_006724609.1:p.Ser378Leu
XM_006724547.1:c.920C>T XP_006724610.1:p.Ser307Leu
XM_011543948.1:c.887C>T XP_011542250.1:p.Ser296Leu
XM_024452425.1:c.1631C>T XP_024308193.1:p.Ser544Leu
NM_001282167.2:c.887C>T NP_001269096.1:p.Ser296Leu
NM_022825.4:c.1100C>T NP_073736.2:p.Ser367Leu
NM_203473.3:c.1118C>T NP_982299.1:p.Ser373Leu
NM_203475.3:c.1133C>T MANE Select NP_982301.1:p.Ser378Leu
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