Canonical Allele Identifier: CA394098445

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 2988003
• ClinVar RCV Id: RCV003842122
• dbSNP Id: rs1462660693
• gnomAD v2: 16-773909-A-G
• gnomAD v3: 16-723909-A-G
• gnomAD v4: 16-723909-A-G
• MyVariant Identifiers: chr16:g.773909A>G (hg19) ; chr16:g.723909A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.723909A>G , CM000678.2:g.723909A>G	GRCh38
NC_000016.9:g.773909A>G , CM000678.1:g.773909A>G	GRCh37
NC_000016.8:g.713910A>G	NCBI36
NG_032932.1:g.7565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1624T>C (CCDC78)
ENST00000345165.10:c.1081T>C (CCDC78) MANE Select	ENSP00000316851.5:p.Ser361Pro
ENST00000293889.10:c.1081T>C (CCDC78)	ENSP00000293889.6:p.Ser361Pro
ENST00000345165.8:c.627T>C (CCDC78)
ENST00000463539.5:n.1403T>C (CCDC78)
ENST00000466708.5:n.1425T>C (CCDC78)
ENST00000478979.5:n.1728T>C (CCDC78)
ENST00000481804.5:n.2059T>C (CCDC78)
ENST00000482152.1:n.442T>C (CCDC78)
ENST00000482878.5:n.2131T>C (CCDC78)
ENST00000485091.5:n.1234T>C (CCDC78)
ENST00000620831.4:c.-49-38723A>G (MSLN)	ENSP00000482893.1:n.-49-38723A>G
NM_001031737.2:c.1081T>C (CCDC78)	NP_001026907.2:p.Ser361Pro
XM_006720838.1:c.1303T>C (CCDC78)	XP_006720901.1:p.Ser435Pro
XM_006720843.2:c.1081T>C (CCDC78)	XP_006720906.1:p.Ser361Pro
XM_011522356.1:c.1528T>C (CCDC78)	XP_011520658.1:p.Ser510Pro
XM_011522357.1:c.1516T>C (CCDC78)	XP_011520659.1:p.Ser506Pro
XM_011522358.1:c.1528T>C (CCDC78)	XP_011520660.1:p.Ser510Pro
XM_011522359.1:c.1495T>C (CCDC78)	XP_011520661.1:p.Ser499Pro
XM_011522360.1:c.1483T>C (CCDC78)	XP_011520662.1:p.Ser495Pro
XM_011522361.1:c.1528T>C (CCDC78)	XP_011520663.1:p.Ser510Pro
XM_011522362.1:c.1528T>C (CCDC78)	XP_011520664.1:p.Ser510Pro
XM_011522363.1:c.1528T>C (CCDC78)	XP_011520665.1:p.Ser510Pro
XM_011522364.1:c.1528T>C (CCDC78)	XP_011520666.1:p.Ser510Pro
XM_011522365.1:c.1315T>C (CCDC78)	XP_011520667.1:p.Ser439Pro
XM_011522366.1:c.1306T>C (CCDC78)	XP_011520668.1:p.Ser436Pro
XM_011522367.1:c.1147T>C (CCDC78)	XP_011520669.1:p.Ser383Pro
XM_011522368.1:c.1135T>C (CCDC78)	XP_011520670.1:p.Ser379Pro
XM_011522369.1:c.1093T>C (CCDC78)	XP_011520671.1:p.Ser365Pro
XM_011522370.1:c.925T>C (CCDC78)	XP_011520672.1:p.Ser309Pro
XM_011522371.1:c.640T>C (CCDC78)	XP_011520673.1:p.Ser214Pro
XM_006720843.4:c.1081T>C (CCDC78)	XP_006720906.1:p.Ser361Pro
XM_011522358.2:c.1528T>C (CCDC78)	XP_011520660.1:p.Ser510Pro
XM_011522371.2:c.640T>C (CCDC78)	XP_011520673.1:p.Ser214Pro
XM_017022929.1:c.1528T>C (CCDC78)	XP_016878418.1:p.Ser510Pro
XM_017022930.1:c.628T>C (CCDC78)	XP_016878419.1:p.Ser210Pro
XM_017022931.1:c.-173T>C (CCDC78)	XP_016878420.1:n.-173T>C
XM_024450150.1:c.358T>C (CCDC78)	XP_024305918.1:p.Ser120Pro
XR_001751835.1:n.1867T>C (CCDC78)
XR_001751836.1:n.1846T>C (CCDC78)
XR_001751837.1:n.1624T>C (CCDC78)
XR_001751838.1:n.1970T>C (CCDC78)
XR_001751839.1:n.1432T>C (CCDC78)
NM_001031737.3:c.1081T>C (CCDC78)	NP_001026907.2:p.Ser361Pro
NM_001378030.1:c.1081T>C (CCDC78) MANE Select	NP_001364959.1:p.Ser361Pro
NM_001378031.1:c.953+413T>C (CCDC78)	NP_001364960.1:n.953+413T>C
NM_001378033.1:c.514T>C (CCDC78)	NP_001364962.1:p.Ser172Pro
NR_165382.1:n.1638T>C (CCDC78)
NR_165383.1:n.1284T>C (CCDC78)
NR_165384.1:n.1249T>C (CCDC78)
NR_165385.1:n.1349T>C (CCDC78)
NR_165386.1:n.1416T>C (CCDC78)