Canonical Allele Identifier: CA492830107

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 1540116
• ClinVar RCV Id: RCV002169790
• dbSNP Id: rs1319236751
• gnomAD v2: 16-774139-G-A
• gnomAD v4: 16-724139-G-A
• MyVariant Identifiers: chr16:g.774139G>A (hg19) ; chr16:g.724139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724139G>A , CM000678.2:g.724139G>A	GRCh38
NC_000016.9:g.774139G>A , CM000678.1:g.774139G>A	GRCh37
NC_000016.8:g.714140G>A	NCBI36
NG_032932.1:g.7335C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1563C>T (CCDC78)
ENST00000345165.10:c.1020C>T (CCDC78) MANE Select	ENSP00000316851.5:p.Pro340=
ENST00000293889.10:c.1020C>T (CCDC78)	ENSP00000293889.6:p.Pro340=
ENST00000345165.8:c.566C>T (CCDC78)
ENST00000463539.5:n.1342C>T (CCDC78)
ENST00000466708.5:n.1364C>T (CCDC78)
ENST00000478979.5:n.1498C>T (CCDC78)
ENST00000481804.5:n.1998C>T (CCDC78)
ENST00000482152.1:n.381C>T (CCDC78)
ENST00000482878.5:n.1901C>T (CCDC78)
ENST00000485091.5:n.1173C>T (CCDC78)
ENST00000620831.4:c.-49-38493G>A (MSLN)	ENSP00000482893.1:n.-49-38493G>A
NM_001031737.2:c.1020C>T (CCDC78)	NP_001026907.2:p.Pro340=
XM_006720838.1:c.1242C>T (CCDC78)	XP_006720901.1:p.Pro414=
XM_006720843.2:c.1020C>T (CCDC78)	XP_006720906.1:p.Pro340=
XM_011522356.1:c.1467C>T (CCDC78)	XP_011520658.1:p.Pro489=
XM_011522357.1:c.1455C>T (CCDC78)	XP_011520659.1:p.Pro485=
XM_011522358.1:c.1467C>T (CCDC78)	XP_011520660.1:p.Pro489=
XM_011522359.1:c.1434C>T (CCDC78)	XP_011520661.1:p.Pro478=
XM_011522360.1:c.1422C>T (CCDC78)	XP_011520662.1:p.Pro474=
XM_011522361.1:c.1467C>T (CCDC78)	XP_011520663.1:p.Pro489=
XM_011522362.1:c.1467C>T (CCDC78)	XP_011520664.1:p.Pro489=
XM_011522363.1:c.1467C>T (CCDC78)	XP_011520665.1:p.Pro489=
XM_011522364.1:c.1467C>T (CCDC78)	XP_011520666.1:p.Pro489=
XM_011522365.1:c.1254C>T (CCDC78)	XP_011520667.1:p.Pro418=
XM_011522366.1:c.1245C>T (CCDC78)	XP_011520668.1:p.Pro415=
XM_011522367.1:c.1086C>T (CCDC78)	XP_011520669.1:p.Pro362=
XM_011522368.1:c.1074C>T (CCDC78)	XP_011520670.1:p.Pro358=
XM_011522369.1:c.1032C>T (CCDC78)	XP_011520671.1:p.Pro344=
XM_011522370.1:c.864C>T (CCDC78)	XP_011520672.1:p.Pro288=
XM_011522371.1:c.579C>T (CCDC78)	XP_011520673.1:p.Pro193=
XM_006720843.4:c.1020C>T (CCDC78)	XP_006720906.1:p.Pro340=
XM_011522358.2:c.1467C>T (CCDC78)	XP_011520660.1:p.Pro489=
XM_011522371.2:c.579C>T (CCDC78)	XP_011520673.1:p.Pro193=
XM_017022929.1:c.1467C>T (CCDC78)	XP_016878418.1:p.Pro489=
XM_017022930.1:c.567C>T (CCDC78)	XP_016878419.1:p.Pro189=
XM_024450150.1:c.297C>T (CCDC78)	XP_024305918.1:p.Pro99=
XR_001751835.1:n.1806C>T (CCDC78)
XR_001751836.1:n.1785C>T (CCDC78)
XR_001751837.1:n.1563C>T (CCDC78)
XR_001751838.1:n.1909C>T (CCDC78)
XR_001751839.1:n.1371C>T (CCDC78)
NM_001031737.3:c.1020C>T (CCDC78)	NP_001026907.2:p.Pro340=
NM_001378030.1:c.1020C>T (CCDC78) MANE Select	NP_001364959.1:p.Pro340=
NM_001378031.1:c.953+183C>T (CCDC78)	NP_001364960.1:n.953+183C>T
NM_001378033.1:c.453C>T (CCDC78)	NP_001364962.1:p.Pro151=
NR_165382.1:n.1577C>T (CCDC78)
NR_165383.1:n.1223C>T (CCDC78)
NR_165384.1:n.1188C>T (CCDC78)
NR_165385.1:n.1288C>T (CCDC78)
NR_165386.1:n.1355C>T (CCDC78)