Canonical Allele Identifier: CA394098775

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 2131802
• ClinVar RCV Id: RCV003052538
• gnomAD v4: 16-724122-C-T
• MyVariant Identifiers: chr16:g.774122C>T (hg19) ; chr16:g.724122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724122C>T , CM000678.2:g.724122C>T	GRCh38
NC_000016.9:g.774122C>T , CM000678.1:g.774122C>T	GRCh37
NC_000016.8:g.714123C>T	NCBI36
NG_032932.1:g.7352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1580G>A (CCDC78)
ENST00000345165.10:c.1037G>A (CCDC78) MANE Select	ENSP00000316851.5:p.Ser346Asn
ENST00000293889.10:c.1037G>A (CCDC78)	ENSP00000293889.6:p.Ser346Asn
ENST00000345165.8:c.583G>A (CCDC78)
ENST00000463539.5:n.1359G>A (CCDC78)
ENST00000466708.5:n.1381G>A (CCDC78)
ENST00000478979.5:n.1515G>A (CCDC78)
ENST00000481804.5:n.2015G>A (CCDC78)
ENST00000482152.1:n.398G>A (CCDC78)
ENST00000482878.5:n.1918G>A (CCDC78)
ENST00000485091.5:n.1190G>A (CCDC78)
ENST00000620831.4:c.-49-38510C>T (MSLN)	ENSP00000482893.1:n.-49-38510C>T
NM_001031737.2:c.1037G>A (CCDC78)	NP_001026907.2:p.Ser346Asn
XM_006720838.1:c.1259G>A (CCDC78)	XP_006720901.1:p.Ser420Asn
XM_006720843.2:c.1037G>A (CCDC78)	XP_006720906.1:p.Ser346Asn
XM_011522356.1:c.1484G>A (CCDC78)	XP_011520658.1:p.Ser495Asn
XM_011522357.1:c.1472G>A (CCDC78)	XP_011520659.1:p.Ser491Asn
XM_011522358.1:c.1484G>A (CCDC78)	XP_011520660.1:p.Ser495Asn
XM_011522359.1:c.1451G>A (CCDC78)	XP_011520661.1:p.Ser484Asn
XM_011522360.1:c.1439G>A (CCDC78)	XP_011520662.1:p.Ser480Asn
XM_011522361.1:c.1484G>A (CCDC78)	XP_011520663.1:p.Ser495Asn
XM_011522362.1:c.1484G>A (CCDC78)	XP_011520664.1:p.Ser495Asn
XM_011522363.1:c.1484G>A (CCDC78)	XP_011520665.1:p.Ser495Asn
XM_011522364.1:c.1484G>A (CCDC78)	XP_011520666.1:p.Ser495Asn
XM_011522365.1:c.1271G>A (CCDC78)	XP_011520667.1:p.Ser424Asn
XM_011522366.1:c.1262G>A (CCDC78)	XP_011520668.1:p.Ser421Asn
XM_011522367.1:c.1103G>A (CCDC78)	XP_011520669.1:p.Ser368Asn
XM_011522368.1:c.1091G>A (CCDC78)	XP_011520670.1:p.Ser364Asn
XM_011522369.1:c.1049G>A (CCDC78)	XP_011520671.1:p.Ser350Asn
XM_011522370.1:c.881G>A (CCDC78)	XP_011520672.1:p.Ser294Asn
XM_011522371.1:c.596G>A (CCDC78)	XP_011520673.1:p.Ser199Asn
XM_006720843.4:c.1037G>A (CCDC78)	XP_006720906.1:p.Ser346Asn
XM_011522358.2:c.1484G>A (CCDC78)	XP_011520660.1:p.Ser495Asn
XM_011522371.2:c.596G>A (CCDC78)	XP_011520673.1:p.Ser199Asn
XM_017022929.1:c.1484G>A (CCDC78)	XP_016878418.1:p.Ser495Asn
XM_017022930.1:c.584G>A (CCDC78)	XP_016878419.1:p.Ser195Asn
XM_024450150.1:c.314G>A (CCDC78)	XP_024305918.1:p.Ser105Asn
XR_001751835.1:n.1823G>A (CCDC78)
XR_001751836.1:n.1802G>A (CCDC78)
XR_001751837.1:n.1580G>A (CCDC78)
XR_001751838.1:n.1926G>A (CCDC78)
XR_001751839.1:n.1388G>A (CCDC78)
NM_001031737.3:c.1037G>A (CCDC78)	NP_001026907.2:p.Ser346Asn
NM_001378030.1:c.1037G>A (CCDC78) MANE Select	NP_001364959.1:p.Ser346Asn
NM_001378031.1:c.953+200G>A (CCDC78)	NP_001364960.1:n.953+200G>A
NM_001378033.1:c.470G>A (CCDC78)	NP_001364962.1:p.Ser157Asn
NR_165382.1:n.1594G>A (CCDC78)
NR_165383.1:n.1240G>A (CCDC78)
NR_165384.1:n.1205G>A (CCDC78)
NR_165385.1:n.1305G>A (CCDC78)
NR_165386.1:n.1372G>A (CCDC78)