Canonical Allele Identifier: CA7789300

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 540481
• ClinVar RCV Id: RCV000650527 ; RCV003945651
• dbSNP Id: rs142170929
• ExAC: 16:774116 C / T
• gnomAD v2: 16-774116-C-T
• gnomAD v3: 16-724116-C-T
• gnomAD v4: 16-724116-C-T
• MyVariant Identifiers: chr16:g.774116C>T (hg19) ; chr16:g.724116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724116C>T , CM000678.2:g.724116C>T	GRCh38
NC_000016.9:g.774116C>T , CM000678.1:g.774116C>T	GRCh37
NC_000016.8:g.714117C>T	NCBI36
NG_032932.1:g.7358G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1586G>A (CCDC78)
ENST00000345165.10:c.1043G>A (CCDC78) MANE Select	ENSP00000316851.5:p.Arg348Gln
ENST00000293889.10:c.1043G>A (CCDC78)	ENSP00000293889.6:p.Arg348Gln
ENST00000345165.8:c.589G>A (CCDC78)
ENST00000463539.5:n.1365G>A (CCDC78)
ENST00000466708.5:n.1387G>A (CCDC78)
ENST00000478979.5:n.1521G>A (CCDC78)
ENST00000481804.5:n.2021G>A (CCDC78)
ENST00000482152.1:n.404G>A (CCDC78)
ENST00000482878.5:n.1924G>A (CCDC78)
ENST00000485091.5:n.1196G>A (CCDC78)
ENST00000620831.4:c.-49-38516C>T (MSLN)	ENSP00000482893.1:n.-49-38516C>T
NM_001031737.2:c.1043G>A (CCDC78)	NP_001026907.2:p.Arg348Gln
XM_006720838.1:c.1265G>A (CCDC78)	XP_006720901.1:p.Arg422Gln
XM_006720843.2:c.1043G>A (CCDC78)	XP_006720906.1:p.Arg348Gln
XM_011522356.1:c.1490G>A (CCDC78)	XP_011520658.1:p.Arg497Gln
XM_011522357.1:c.1478G>A (CCDC78)	XP_011520659.1:p.Arg493Gln
XM_011522358.1:c.1490G>A (CCDC78)	XP_011520660.1:p.Arg497Gln
XM_011522359.1:c.1457G>A (CCDC78)	XP_011520661.1:p.Arg486Gln
XM_011522360.1:c.1445G>A (CCDC78)	XP_011520662.1:p.Arg482Gln
XM_011522361.1:c.1490G>A (CCDC78)	XP_011520663.1:p.Arg497Gln
XM_011522362.1:c.1490G>A (CCDC78)	XP_011520664.1:p.Arg497Gln
XM_011522363.1:c.1490G>A (CCDC78)	XP_011520665.1:p.Arg497Gln
XM_011522364.1:c.1490G>A (CCDC78)	XP_011520666.1:p.Arg497Gln
XM_011522365.1:c.1277G>A (CCDC78)	XP_011520667.1:p.Arg426Gln
XM_011522366.1:c.1268G>A (CCDC78)	XP_011520668.1:p.Arg423Gln
XM_011522367.1:c.1109G>A (CCDC78)	XP_011520669.1:p.Arg370Gln
XM_011522368.1:c.1097G>A (CCDC78)	XP_011520670.1:p.Arg366Gln
XM_011522369.1:c.1055G>A (CCDC78)	XP_011520671.1:p.Arg352Gln
XM_011522370.1:c.887G>A (CCDC78)	XP_011520672.1:p.Arg296Gln
XM_011522371.1:c.602G>A (CCDC78)	XP_011520673.1:p.Arg201Gln
XM_006720843.4:c.1043G>A (CCDC78)	XP_006720906.1:p.Arg348Gln
XM_011522358.2:c.1490G>A (CCDC78)	XP_011520660.1:p.Arg497Gln
XM_011522371.2:c.602G>A (CCDC78)	XP_011520673.1:p.Arg201Gln
XM_017022929.1:c.1490G>A (CCDC78)	XP_016878418.1:p.Arg497Gln
XM_017022930.1:c.590G>A (CCDC78)	XP_016878419.1:p.Arg197Gln
XM_024450150.1:c.320G>A (CCDC78)	XP_024305918.1:p.Arg107Gln
XR_001751835.1:n.1829G>A (CCDC78)
XR_001751836.1:n.1808G>A (CCDC78)
XR_001751837.1:n.1586G>A (CCDC78)
XR_001751838.1:n.1932G>A (CCDC78)
XR_001751839.1:n.1394G>A (CCDC78)
NM_001031737.3:c.1043G>A (CCDC78)	NP_001026907.2:p.Arg348Gln
NM_001378030.1:c.1043G>A (CCDC78) MANE Select	NP_001364959.1:p.Arg348Gln
NM_001378031.1:c.953+206G>A (CCDC78)	NP_001364960.1:n.953+206G>A
NM_001378033.1:c.476G>A (CCDC78)	NP_001364962.1:p.Arg159Gln
NR_165382.1:n.1600G>A (CCDC78)
NR_165383.1:n.1246G>A (CCDC78)
NR_165384.1:n.1211G>A (CCDC78)
NR_165385.1:n.1311G>A (CCDC78)
NR_165386.1:n.1378G>A (CCDC78)