Canonical Allele Identifier: CA394098801

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 1352227
• ClinVar RCV Id: RCV002049418
• dbSNP Id: rs2040580658
• gnomAD v4: 16-724126-A-G
• MyVariant Identifiers: chr16:g.774126A>G (hg19) ; chr16:g.724126A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724126A>G , CM000678.2:g.724126A>G	GRCh38
NC_000016.9:g.774126A>G , CM000678.1:g.774126A>G	GRCh37
NC_000016.8:g.714127A>G	NCBI36
NG_032932.1:g.7348T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1576T>C (CCDC78)
ENST00000345165.10:c.1033T>C (CCDC78) MANE Select	ENSP00000316851.5:p.Phe345Leu
ENST00000293889.10:c.1033T>C (CCDC78)	ENSP00000293889.6:p.Phe345Leu
ENST00000345165.8:c.579T>C (CCDC78)
ENST00000463539.5:n.1355T>C (CCDC78)
ENST00000466708.5:n.1377T>C (CCDC78)
ENST00000478979.5:n.1511T>C (CCDC78)
ENST00000481804.5:n.2011T>C (CCDC78)
ENST00000482152.1:n.394T>C (CCDC78)
ENST00000482878.5:n.1914T>C (CCDC78)
ENST00000485091.5:n.1186T>C (CCDC78)
ENST00000620831.4:c.-49-38506A>G (MSLN)	ENSP00000482893.1:n.-49-38506A>G
NM_001031737.2:c.1033T>C (CCDC78)	NP_001026907.2:p.Phe345Leu
XM_006720838.1:c.1255T>C (CCDC78)	XP_006720901.1:p.Phe419Leu
XM_006720843.2:c.1033T>C (CCDC78)	XP_006720906.1:p.Phe345Leu
XM_011522356.1:c.1480T>C (CCDC78)	XP_011520658.1:p.Phe494Leu
XM_011522357.1:c.1468T>C (CCDC78)	XP_011520659.1:p.Phe490Leu
XM_011522358.1:c.1480T>C (CCDC78)	XP_011520660.1:p.Phe494Leu
XM_011522359.1:c.1447T>C (CCDC78)	XP_011520661.1:p.Phe483Leu
XM_011522360.1:c.1435T>C (CCDC78)	XP_011520662.1:p.Phe479Leu
XM_011522361.1:c.1480T>C (CCDC78)	XP_011520663.1:p.Phe494Leu
XM_011522362.1:c.1480T>C (CCDC78)	XP_011520664.1:p.Phe494Leu
XM_011522363.1:c.1480T>C (CCDC78)	XP_011520665.1:p.Phe494Leu
XM_011522364.1:c.1480T>C (CCDC78)	XP_011520666.1:p.Phe494Leu
XM_011522365.1:c.1267T>C (CCDC78)	XP_011520667.1:p.Phe423Leu
XM_011522366.1:c.1258T>C (CCDC78)	XP_011520668.1:p.Phe420Leu
XM_011522367.1:c.1099T>C (CCDC78)	XP_011520669.1:p.Phe367Leu
XM_011522368.1:c.1087T>C (CCDC78)	XP_011520670.1:p.Phe363Leu
XM_011522369.1:c.1045T>C (CCDC78)	XP_011520671.1:p.Phe349Leu
XM_011522370.1:c.877T>C (CCDC78)	XP_011520672.1:p.Phe293Leu
XM_011522371.1:c.592T>C (CCDC78)	XP_011520673.1:p.Phe198Leu
XM_006720843.4:c.1033T>C (CCDC78)	XP_006720906.1:p.Phe345Leu
XM_011522358.2:c.1480T>C (CCDC78)	XP_011520660.1:p.Phe494Leu
XM_011522371.2:c.592T>C (CCDC78)	XP_011520673.1:p.Phe198Leu
XM_017022929.1:c.1480T>C (CCDC78)	XP_016878418.1:p.Phe494Leu
XM_017022930.1:c.580T>C (CCDC78)	XP_016878419.1:p.Phe194Leu
XM_024450150.1:c.310T>C (CCDC78)	XP_024305918.1:p.Phe104Leu
XR_001751835.1:n.1819T>C (CCDC78)
XR_001751836.1:n.1798T>C (CCDC78)
XR_001751837.1:n.1576T>C (CCDC78)
XR_001751838.1:n.1922T>C (CCDC78)
XR_001751839.1:n.1384T>C (CCDC78)
NM_001031737.3:c.1033T>C (CCDC78)	NP_001026907.2:p.Phe345Leu
NM_001378030.1:c.1033T>C (CCDC78) MANE Select	NP_001364959.1:p.Phe345Leu
NM_001378031.1:c.953+196T>C (CCDC78)	NP_001364960.1:n.953+196T>C
NM_001378033.1:c.466T>C (CCDC78)	NP_001364962.1:p.Phe156Leu
NR_165382.1:n.1590T>C (CCDC78)
NR_165383.1:n.1236T>C (CCDC78)
NR_165384.1:n.1201T>C (CCDC78)
NR_165385.1:n.1301T>C (CCDC78)
NR_165386.1:n.1368T>C (CCDC78)