Canonical Allele Identifier: CA7789294

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 1625588
• ClinVar RCV Id: RCV002130351
• dbSNP Id: rs769940521
• ExAC: 16:774093 T / C
• gnomAD v2: 16-774093-T-C
• gnomAD v3: 16-724093-T-C
• gnomAD v4: 16-724093-T-C
• MyVariant Identifiers: chr16:g.774093T>C (hg19) ; chr16:g.724093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724093T>C , CM000678.2:g.724093T>C	GRCh38
NC_000016.9:g.774093T>C , CM000678.1:g.774093T>C	GRCh37
NC_000016.8:g.714094T>C	NCBI36
NG_032932.1:g.7381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1596+13A>G (CCDC78)
ENST00000345165.10:c.1053+13A>G (CCDC78) MANE Select	ENSP00000316851.5:n.1053+13A>G
ENST00000293889.10:c.1053+13A>G (CCDC78)	ENSP00000293889.6:n.1053+13A>G
ENST00000345165.8:c.599+13A>G (CCDC78)
ENST00000463539.5:n.1375+13A>G (CCDC78)
ENST00000466708.5:n.1397+13A>G (CCDC78)
ENST00000478979.5:n.1544A>G (CCDC78)
ENST00000481804.5:n.2031+13A>G (CCDC78)
ENST00000482152.1:n.414+13A>G (CCDC78)
ENST00000482878.5:n.1947A>G (CCDC78)
ENST00000485091.5:n.1206+13A>G (CCDC78)
ENST00000620831.4:c.-49-38539T>C (MSLN)	ENSP00000482893.1:n.-49-38539T>C
NM_001031737.2:c.1053+13A>G (CCDC78)	NP_001026907.2:n.1053+13A>G
XM_006720838.1:c.1275+13A>G (CCDC78)	XP_006720901.1:n.1275+13A>G
XM_006720843.2:c.1053+13A>G (CCDC78)	XP_006720906.1:n.1053+13A>G
XM_011522356.1:c.1500+13A>G (CCDC78)	XP_011520658.1:n.1500+13A>G
XM_011522357.1:c.1488+13A>G (CCDC78)	XP_011520659.1:n.1488+13A>G
XM_011522358.1:c.1500+13A>G (CCDC78)	XP_011520660.1:n.1500+13A>G
XM_011522359.1:c.1467+13A>G (CCDC78)	XP_011520661.1:n.1467+13A>G
XM_011522360.1:c.1455+13A>G (CCDC78)	XP_011520662.1:n.1455+13A>G
XM_011522361.1:c.1500+13A>G (CCDC78)	XP_011520663.1:n.1500+13A>G
XM_011522362.1:c.1500+13A>G (CCDC78)	XP_011520664.1:n.1500+13A>G
XM_011522363.1:c.1500+13A>G (CCDC78)	XP_011520665.1:n.1500+13A>G
XM_011522364.1:c.1500+13A>G (CCDC78)	XP_011520666.1:n.1500+13A>G
XM_011522365.1:c.1287+13A>G (CCDC78)	XP_011520667.1:n.1287+13A>G
XM_011522366.1:c.1278+13A>G (CCDC78)	XP_011520668.1:n.1278+13A>G
XM_011522367.1:c.1119+13A>G (CCDC78)	XP_011520669.1:n.1119+13A>G
XM_011522368.1:c.1107+13A>G (CCDC78)	XP_011520670.1:n.1107+13A>G
XM_011522369.1:c.1065+13A>G (CCDC78)	XP_011520671.1:n.1065+13A>G
XM_011522370.1:c.897+13A>G (CCDC78)	XP_011520672.1:n.897+13A>G
XM_011522371.1:c.612+13A>G (CCDC78)	XP_011520673.1:n.612+13A>G
XM_006720843.4:c.1053+13A>G (CCDC78)	XP_006720906.1:n.1053+13A>G
XM_011522358.2:c.1500+13A>G (CCDC78)	XP_011520660.1:n.1500+13A>G
XM_011522371.2:c.612+13A>G (CCDC78)	XP_011520673.1:n.612+13A>G
XM_017022929.1:c.1500+13A>G (CCDC78)	XP_016878418.1:n.1500+13A>G
XM_017022930.1:c.600+13A>G (CCDC78)	XP_016878419.1:n.600+13A>G
XM_024450150.1:c.330+13A>G (CCDC78)	XP_024305918.1:n.330+13A>G
XR_001751835.1:n.1839+13A>G (CCDC78)
XR_001751836.1:n.1818+13A>G (CCDC78)
XR_001751837.1:n.1596+13A>G (CCDC78)
XR_001751838.1:n.1942+13A>G (CCDC78)
XR_001751839.1:n.1404+13A>G (CCDC78)
NM_001031737.3:c.1053+13A>G (CCDC78)	NP_001026907.2:n.1053+13A>G
NM_001378030.1:c.1053+13A>G (CCDC78) MANE Select	NP_001364959.1:n.1053+13A>G
NM_001378031.1:c.953+229A>G (CCDC78)	NP_001364960.1:n.953+229A>G
NM_001378033.1:c.486+13A>G (CCDC78)	NP_001364962.1:n.486+13A>G
NR_165382.1:n.1610+13A>G (CCDC78)
NR_165383.1:n.1256+13A>G (CCDC78)
NR_165384.1:n.1221+13A>G (CCDC78)
NR_165385.1:n.1321+13A>G (CCDC78)
NR_165386.1:n.1388+13A>G (CCDC78)