Canonical Allele Identifier: CA394098869

Gene: CCDC78 MSLN

Linked Data

• dbSNP Id: rs1385092869
• gnomAD v2: 16-774137-A-G
• gnomAD v3: 16-724137-A-G
• gnomAD v4: 16-724137-A-G
• MyVariant Identifiers: chr16:g.774137A>G (hg19) ; chr16:g.724137A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724137A>G , CM000678.2:g.724137A>G	GRCh38
NC_000016.9:g.774137A>G , CM000678.1:g.774137A>G	GRCh37
NC_000016.8:g.714138A>G	NCBI36
NG_032932.1:g.7337T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1565T>C (CCDC78)
ENST00000345165.10:c.1022T>C (CCDC78) MANE Select	ENSP00000316851.5:p.Leu341Pro
ENST00000293889.10:c.1022T>C (CCDC78)	ENSP00000293889.6:p.Leu341Pro
ENST00000345165.8:c.568T>C (CCDC78)
ENST00000463539.5:n.1344T>C (CCDC78)
ENST00000466708.5:n.1366T>C (CCDC78)
ENST00000478979.5:n.1500T>C (CCDC78)
ENST00000481804.5:n.2000T>C (CCDC78)
ENST00000482152.1:n.383T>C (CCDC78)
ENST00000482878.5:n.1903T>C (CCDC78)
ENST00000485091.5:n.1175T>C (CCDC78)
ENST00000620831.4:c.-49-38495A>G (MSLN)	ENSP00000482893.1:n.-49-38495A>G
NM_001031737.2:c.1022T>C (CCDC78)	NP_001026907.2:p.Leu341Pro
XM_006720838.1:c.1244T>C (CCDC78)	XP_006720901.1:p.Leu415Pro
XM_006720843.2:c.1022T>C (CCDC78)	XP_006720906.1:p.Leu341Pro
XM_011522356.1:c.1469T>C (CCDC78)	XP_011520658.1:p.Leu490Pro
XM_011522357.1:c.1457T>C (CCDC78)	XP_011520659.1:p.Leu486Pro
XM_011522358.1:c.1469T>C (CCDC78)	XP_011520660.1:p.Leu490Pro
XM_011522359.1:c.1436T>C (CCDC78)	XP_011520661.1:p.Leu479Pro
XM_011522360.1:c.1424T>C (CCDC78)	XP_011520662.1:p.Leu475Pro
XM_011522361.1:c.1469T>C (CCDC78)	XP_011520663.1:p.Leu490Pro
XM_011522362.1:c.1469T>C (CCDC78)	XP_011520664.1:p.Leu490Pro
XM_011522363.1:c.1469T>C (CCDC78)	XP_011520665.1:p.Leu490Pro
XM_011522364.1:c.1469T>C (CCDC78)	XP_011520666.1:p.Leu490Pro
XM_011522365.1:c.1256T>C (CCDC78)	XP_011520667.1:p.Leu419Pro
XM_011522366.1:c.1247T>C (CCDC78)	XP_011520668.1:p.Leu416Pro
XM_011522367.1:c.1088T>C (CCDC78)	XP_011520669.1:p.Leu363Pro
XM_011522368.1:c.1076T>C (CCDC78)	XP_011520670.1:p.Leu359Pro
XM_011522369.1:c.1034T>C (CCDC78)	XP_011520671.1:p.Leu345Pro
XM_011522370.1:c.866T>C (CCDC78)	XP_011520672.1:p.Leu289Pro
XM_011522371.1:c.581T>C (CCDC78)	XP_011520673.1:p.Leu194Pro
XM_006720843.4:c.1022T>C (CCDC78)	XP_006720906.1:p.Leu341Pro
XM_011522358.2:c.1469T>C (CCDC78)	XP_011520660.1:p.Leu490Pro
XM_011522371.2:c.581T>C (CCDC78)	XP_011520673.1:p.Leu194Pro
XM_017022929.1:c.1469T>C (CCDC78)	XP_016878418.1:p.Leu490Pro
XM_017022930.1:c.569T>C (CCDC78)	XP_016878419.1:p.Leu190Pro
XM_024450150.1:c.299T>C (CCDC78)	XP_024305918.1:p.Leu100Pro
XR_001751835.1:n.1808T>C (CCDC78)
XR_001751836.1:n.1787T>C (CCDC78)
XR_001751837.1:n.1565T>C (CCDC78)
XR_001751838.1:n.1911T>C (CCDC78)
XR_001751839.1:n.1373T>C (CCDC78)
NM_001031737.3:c.1022T>C (CCDC78)	NP_001026907.2:p.Leu341Pro
NM_001378030.1:c.1022T>C (CCDC78) MANE Select	NP_001364959.1:p.Leu341Pro
NM_001378031.1:c.953+185T>C (CCDC78)	NP_001364960.1:n.953+185T>C
NM_001378033.1:c.455T>C (CCDC78)	NP_001364962.1:p.Leu152Pro
NR_165382.1:n.1579T>C (CCDC78)
NR_165383.1:n.1225T>C (CCDC78)
NR_165384.1:n.1190T>C (CCDC78)
NR_165385.1:n.1290T>C (CCDC78)
NR_165386.1:n.1357T>C (CCDC78)