Canonical Allele Identifier: CA7789305

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 2439801
• ClinVar RCV Id: RCV003144701
• dbSNP Id: rs759037918
• ExAC: 16:774144 C / T
• gnomAD v2: 16-774144-C-T
• gnomAD v3: 16-724144-C-T
• gnomAD v4: 16-724144-C-T
• COSMIC: COSM5055116
• MyVariant Identifiers: chr16:g.774144C>T (hg19) ; chr16:g.724144C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724144C>T , CM000678.2:g.724144C>T	GRCh38
NC_000016.9:g.774144C>T , CM000678.1:g.774144C>T	GRCh37
NC_000016.8:g.714145C>T	NCBI36
NG_032932.1:g.7330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1558G>A (CCDC78)
ENST00000345165.10:c.1015G>A (CCDC78) MANE Select	ENSP00000316851.5:p.Val339Met
ENST00000293889.10:c.1015G>A (CCDC78)	ENSP00000293889.6:p.Val339Met
ENST00000345165.8:c.561G>A (CCDC78)
ENST00000463539.5:n.1337G>A (CCDC78)
ENST00000466708.5:n.1359G>A (CCDC78)
ENST00000478979.5:n.1493G>A (CCDC78)
ENST00000481804.5:n.1993G>A (CCDC78)
ENST00000482152.1:n.376G>A (CCDC78)
ENST00000482878.5:n.1896G>A (CCDC78)
ENST00000485091.5:n.1168G>A (CCDC78)
ENST00000620831.4:c.-49-38488C>T (MSLN)	ENSP00000482893.1:n.-49-38488C>T
NM_001031737.2:c.1015G>A (CCDC78)	NP_001026907.2:p.Val339Met
XM_006720838.1:c.1237G>A (CCDC78)	XP_006720901.1:p.Val413Met
XM_006720843.2:c.1015G>A (CCDC78)	XP_006720906.1:p.Val339Met
XM_011522356.1:c.1462G>A (CCDC78)	XP_011520658.1:p.Val488Met
XM_011522357.1:c.1450G>A (CCDC78)	XP_011520659.1:p.Val484Met
XM_011522358.1:c.1462G>A (CCDC78)	XP_011520660.1:p.Val488Met
XM_011522359.1:c.1429G>A (CCDC78)	XP_011520661.1:p.Val477Met
XM_011522360.1:c.1417G>A (CCDC78)	XP_011520662.1:p.Val473Met
XM_011522361.1:c.1462G>A (CCDC78)	XP_011520663.1:p.Val488Met
XM_011522362.1:c.1462G>A (CCDC78)	XP_011520664.1:p.Val488Met
XM_011522363.1:c.1462G>A (CCDC78)	XP_011520665.1:p.Val488Met
XM_011522364.1:c.1462G>A (CCDC78)	XP_011520666.1:p.Val488Met
XM_011522365.1:c.1249G>A (CCDC78)	XP_011520667.1:p.Val417Met
XM_011522366.1:c.1240G>A (CCDC78)	XP_011520668.1:p.Val414Met
XM_011522367.1:c.1081G>A (CCDC78)	XP_011520669.1:p.Val361Met
XM_011522368.1:c.1069G>A (CCDC78)	XP_011520670.1:p.Val357Met
XM_011522369.1:c.1027G>A (CCDC78)	XP_011520671.1:p.Val343Met
XM_011522370.1:c.859G>A (CCDC78)	XP_011520672.1:p.Val287Met
XM_011522371.1:c.574G>A (CCDC78)	XP_011520673.1:p.Val192Met
XM_006720843.4:c.1015G>A (CCDC78)	XP_006720906.1:p.Val339Met
XM_011522358.2:c.1462G>A (CCDC78)	XP_011520660.1:p.Val488Met
XM_011522371.2:c.574G>A (CCDC78)	XP_011520673.1:p.Val192Met
XM_017022929.1:c.1462G>A (CCDC78)	XP_016878418.1:p.Val488Met
XM_017022930.1:c.562G>A (CCDC78)	XP_016878419.1:p.Val188Met
XM_024450150.1:c.292G>A (CCDC78)	XP_024305918.1:p.Val98Met
XR_001751835.1:n.1801G>A (CCDC78)
XR_001751836.1:n.1780G>A (CCDC78)
XR_001751837.1:n.1558G>A (CCDC78)
XR_001751838.1:n.1904G>A (CCDC78)
XR_001751839.1:n.1366G>A (CCDC78)
NM_001031737.3:c.1015G>A (CCDC78)	NP_001026907.2:p.Val339Met
NM_001378030.1:c.1015G>A (CCDC78) MANE Select	NP_001364959.1:p.Val339Met
NM_001378031.1:c.953+178G>A (CCDC78)	NP_001364960.1:n.953+178G>A
NM_001378033.1:c.448G>A (CCDC78)	NP_001364962.1:p.Val150Met
NR_165382.1:n.1572G>A (CCDC78)
NR_165383.1:n.1218G>A (CCDC78)
NR_165384.1:n.1183G>A (CCDC78)
NR_165385.1:n.1283G>A (CCDC78)
NR_165386.1:n.1350G>A (CCDC78)