Canonical Allele Identifier: CA10587247

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 257166
• ClinVar RCV Id: RCV000251031
• dbSNP Id: rs886038379
• gnomAD v2: 16-775544-G-A
• gnomAD v3: 16-725544-G-A
• gnomAD v4: 16-725544-G-A
• MyVariant Identifiers: chr16:g.775544G>A (hg19) ; chr16:g.725544G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.725544G>A , CM000678.2:g.725544G>A	GRCh38
NC_000016.9:g.775544G>A , CM000678.1:g.775544G>A	GRCh37
NC_000016.8:g.715545G>A	NCBI36
NG_032932.1:g.5930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423653.6:n.349C>T (CCDC78)
ENST00000682391.1:n.393C>T (CCDC78)
ENST00000345165.10:c.304C>T (CCDC78) MANE Select	ENSP00000316851.5:p.Leu102=
ENST00000293889.10:c.304C>T (CCDC78)	ENSP00000293889.6:p.Leu102=
ENST00000423653.5:c.-150C>T (CCDC78)	ENSP00000458590.1:n.-150C>T
ENST00000439619.6:n.381C>T (CCDC78)
ENST00000460023.5:n.304C>T (CCDC78)
ENST00000463539.5:n.367C>T (CCDC78)
ENST00000466708.5:n.510C>T (CCDC78)
ENST00000471861.5:n.410C>T (CCDC78)
ENST00000474647.1:n.336-251C>T (CCDC78)
ENST00000478979.5:n.344-251C>T (CCDC78)
ENST00000481804.5:n.593C>T (CCDC78)
ENST00000482878.5:n.615C>T (CCDC78)
ENST00000485091.5:n.366C>T (CCDC78)
ENST00000538176.5:n.374C>T (CCDC78)
ENST00000544996.1:n.110C>T (CCDC78)
ENST00000620831.4:c.-49-37088G>A (MSLN)	ENSP00000482893.1:n.-49-37088G>A
NM_001031737.2:c.304C>T (CCDC78)	NP_001026907.2:p.Leu102=
XM_005255106.3:c.304C>T (CCDC78)	XP_005255163.1:p.Leu102=
XM_006720838.1:c.526C>T (CCDC78)	XP_006720901.1:p.Leu176=
XM_006720843.2:c.304C>T (CCDC78)	XP_006720906.1:p.Leu102=
XM_011522356.1:c.739C>T (CCDC78)	XP_011520658.1:p.Leu247=
XM_011522357.1:c.739C>T (CCDC78)	XP_011520659.1:p.Leu247=
XM_011522358.1:c.739C>T (CCDC78)	XP_011520660.1:p.Leu247=
XM_011522359.1:c.739C>T (CCDC78)	XP_011520661.1:p.Leu247=
XM_011522360.1:c.739C>T (CCDC78)	XP_011520662.1:p.Leu247=
XM_011522361.1:c.739C>T (CCDC78)	XP_011520663.1:p.Leu247=
XM_011522362.1:c.739C>T (CCDC78)	XP_011520664.1:p.Leu247=
XM_011522363.1:c.739C>T (CCDC78)	XP_011520665.1:p.Leu247=
XM_011522364.1:c.739C>T (CCDC78)	XP_011520666.1:p.Leu247=
XM_011522365.1:c.526C>T (CCDC78)	XP_011520667.1:p.Leu176=
XM_011522366.1:c.517C>T (CCDC78)	XP_011520668.1:p.Leu173=
XM_011522367.1:c.490-251C>T (CCDC78)	XP_011520669.1:n.490-251C>T
XM_011522368.1:c.490-251C>T (CCDC78)	XP_011520670.1:n.490-251C>T
XM_011522369.1:c.304C>T (CCDC78)	XP_011520671.1:p.Leu102=
XM_011522370.1:c.268-251C>T (CCDC78)	XP_011520672.1:n.268-251C>T
XM_011522371.1:c.-18-251C>T (CCDC78)	XP_011520673.1:n.-18-251C>T
XM_006720843.4:c.304C>T (CCDC78)	XP_006720906.1:p.Leu102=
XM_011522358.2:c.739C>T (CCDC78)	XP_011520660.1:p.Leu247=
XM_011522371.2:c.-18-251C>T (CCDC78)	XP_011520673.1:n.-18-251C>T
XM_017022929.1:c.739C>T (CCDC78)	XP_016878418.1:p.Leu247=
XM_017022930.1:c.-150C>T (CCDC78)	XP_016878419.1:n.-150C>T
XR_001751835.1:n.828C>T (CCDC78)
XR_001751836.1:n.615C>T (CCDC78)
XR_001751837.1:n.393C>T (CCDC78)
XR_001751838.1:n.772C>T (CCDC78)
XR_001751839.1:n.393C>T (CCDC78)
NM_001031737.3:c.304C>T (CCDC78)	NP_001026907.2:p.Leu102=
NM_001378030.1:c.304C>T (CCDC78) MANE Select	NP_001364959.1:p.Leu102=
NM_001378031.1:c.304C>T (CCDC78)	NP_001364960.1:p.Leu102=
NM_001378033.1:c.-18-251C>T (CCDC78)	NP_001364962.1:n.-18-251C>T
NR_165382.1:n.602C>T (CCDC78)
NR_165383.1:n.336C>T (CCDC78)
NR_165384.1:n.336C>T (CCDC78)
NR_165385.1:n.380C>T (CCDC78)
NR_165386.1:n.380C>T (CCDC78)