Canonical Allele Identifier: CA394098733

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 1001168
• ClinVar RCV Id: RCV001297422
• dbSNP Id: rs142170929
• gnomAD v4: 16-724116-C-A
• COSMIC: COSM6360237
• MyVariant Identifiers: chr16:g.774116C>A (hg19) ; chr16:g.724116C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1586G>T (CCDC78)
ENST00000345165.10:c.1043G>T (CCDC78) MANE Select	ENSP00000316851.5:p.Arg348Leu
ENST00000293889.10:c.1043G>T (CCDC78)	ENSP00000293889.6:p.Arg348Leu
ENST00000345165.8:c.589G>T (CCDC78)
ENST00000463539.5:n.1365G>T (CCDC78)
ENST00000466708.5:n.1387G>T (CCDC78)
ENST00000478979.5:n.1521G>T (CCDC78)
ENST00000481804.5:n.2021G>T (CCDC78)
ENST00000482152.1:n.404G>T (CCDC78)
ENST00000482878.5:n.1924G>T (CCDC78)
ENST00000485091.5:n.1196G>T (CCDC78)
ENST00000620831.4:c.-49-38516C>A (MSLN)	ENSP00000482893.1:n.-49-38516C>A
NM_001031737.2:c.1043G>T (CCDC78)	NP_001026907.2:p.Arg348Leu
XM_006720838.1:c.1265G>T (CCDC78)	XP_006720901.1:p.Arg422Leu
XM_006720843.2:c.1043G>T (CCDC78)	XP_006720906.1:p.Arg348Leu
XM_011522356.1:c.1490G>T (CCDC78)	XP_011520658.1:p.Arg497Leu
XM_011522357.1:c.1478G>T (CCDC78)	XP_011520659.1:p.Arg493Leu
XM_011522358.1:c.1490G>T (CCDC78)	XP_011520660.1:p.Arg497Leu
XM_011522359.1:c.1457G>T (CCDC78)	XP_011520661.1:p.Arg486Leu
XM_011522360.1:c.1445G>T (CCDC78)	XP_011520662.1:p.Arg482Leu
XM_011522361.1:c.1490G>T (CCDC78)	XP_011520663.1:p.Arg497Leu
XM_011522362.1:c.1490G>T (CCDC78)	XP_011520664.1:p.Arg497Leu
XM_011522363.1:c.1490G>T (CCDC78)	XP_011520665.1:p.Arg497Leu
XM_011522364.1:c.1490G>T (CCDC78)	XP_011520666.1:p.Arg497Leu
XM_011522365.1:c.1277G>T (CCDC78)	XP_011520667.1:p.Arg426Leu
XM_011522366.1:c.1268G>T (CCDC78)	XP_011520668.1:p.Arg423Leu
XM_011522367.1:c.1109G>T (CCDC78)	XP_011520669.1:p.Arg370Leu
XM_011522368.1:c.1097G>T (CCDC78)	XP_011520670.1:p.Arg366Leu
XM_011522369.1:c.1055G>T (CCDC78)	XP_011520671.1:p.Arg352Leu
XM_011522370.1:c.887G>T (CCDC78)	XP_011520672.1:p.Arg296Leu
XM_011522371.1:c.602G>T (CCDC78)	XP_011520673.1:p.Arg201Leu
XM_006720843.4:c.1043G>T (CCDC78)	XP_006720906.1:p.Arg348Leu
XM_011522358.2:c.1490G>T (CCDC78)	XP_011520660.1:p.Arg497Leu
XM_011522371.2:c.602G>T (CCDC78)	XP_011520673.1:p.Arg201Leu
XM_017022929.1:c.1490G>T (CCDC78)	XP_016878418.1:p.Arg497Leu
XM_017022930.1:c.590G>T (CCDC78)	XP_016878419.1:p.Arg197Leu
XM_024450150.1:c.320G>T (CCDC78)	XP_024305918.1:p.Arg107Leu
XR_001751835.1:n.1829G>T (CCDC78)
XR_001751836.1:n.1808G>T (CCDC78)
XR_001751837.1:n.1586G>T (CCDC78)
XR_001751838.1:n.1932G>T (CCDC78)
XR_001751839.1:n.1394G>T (CCDC78)
NM_001031737.3:c.1043G>T (CCDC78)	NP_001026907.2:p.Arg348Leu
NM_001378030.1:c.1043G>T (CCDC78) MANE Select	NP_001364959.1:p.Arg348Leu
NM_001378031.1:c.953+206G>T (CCDC78)	NP_001364960.1:n.953+206G>T
NM_001378033.1:c.476G>T (CCDC78)	NP_001364962.1:p.Arg159Leu
NR_165382.1:n.1600G>T (CCDC78)
NR_165383.1:n.1246G>T (CCDC78)
NR_165384.1:n.1211G>T (CCDC78)
NR_165385.1:n.1311G>T (CCDC78)
NR_165386.1:n.1378G>T (CCDC78)