Canonical Allele Identifier: CA7789304

Gene: CCDC78 MSLN

Linked Data

• ClinVar Variation Id: 473246
• ClinVar RCV Id: RCV000550251
• dbSNP Id: rs369908634
• ExAC: 16:774120 G / A
• gnomAD v2: 16-774120-G-A
• gnomAD v3: 16-724120-G-A
• gnomAD v4: 16-724120-G-A
• MyVariant Identifiers: chr16:g.774120G>A (hg19) ; chr16:g.724120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724120G>A , CM000678.2:g.724120G>A	GRCh38
NC_000016.9:g.774120G>A , CM000678.1:g.774120G>A	GRCh37
NC_000016.8:g.714121G>A	NCBI36
NG_032932.1:g.7354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1582C>T (CCDC78)
ENST00000345165.10:c.1039C>T (CCDC78) MANE Select	ENSP00000316851.5:p.His347Tyr
ENST00000293889.10:c.1039C>T (CCDC78)	ENSP00000293889.6:p.His347Tyr
ENST00000345165.8:c.585C>T (CCDC78)
ENST00000463539.5:n.1361C>T (CCDC78)
ENST00000466708.5:n.1383C>T (CCDC78)
ENST00000478979.5:n.1517C>T (CCDC78)
ENST00000481804.5:n.2017C>T (CCDC78)
ENST00000482152.1:n.400C>T (CCDC78)
ENST00000482878.5:n.1920C>T (CCDC78)
ENST00000485091.5:n.1192C>T (CCDC78)
ENST00000620831.4:c.-49-38512G>A (MSLN)	ENSP00000482893.1:n.-49-38512G>A
NM_001031737.2:c.1039C>T (CCDC78)	NP_001026907.2:p.His347Tyr
XM_006720838.1:c.1261C>T (CCDC78)	XP_006720901.1:p.His421Tyr
XM_006720843.2:c.1039C>T (CCDC78)	XP_006720906.1:p.His347Tyr
XM_011522356.1:c.1486C>T (CCDC78)	XP_011520658.1:p.His496Tyr
XM_011522357.1:c.1474C>T (CCDC78)	XP_011520659.1:p.His492Tyr
XM_011522358.1:c.1486C>T (CCDC78)	XP_011520660.1:p.His496Tyr
XM_011522359.1:c.1453C>T (CCDC78)	XP_011520661.1:p.His485Tyr
XM_011522360.1:c.1441C>T (CCDC78)	XP_011520662.1:p.His481Tyr
XM_011522361.1:c.1486C>T (CCDC78)	XP_011520663.1:p.His496Tyr
XM_011522362.1:c.1486C>T (CCDC78)	XP_011520664.1:p.His496Tyr
XM_011522363.1:c.1486C>T (CCDC78)	XP_011520665.1:p.His496Tyr
XM_011522364.1:c.1486C>T (CCDC78)	XP_011520666.1:p.His496Tyr
XM_011522365.1:c.1273C>T (CCDC78)	XP_011520667.1:p.His425Tyr
XM_011522366.1:c.1264C>T (CCDC78)	XP_011520668.1:p.His422Tyr
XM_011522367.1:c.1105C>T (CCDC78)	XP_011520669.1:p.His369Tyr
XM_011522368.1:c.1093C>T (CCDC78)	XP_011520670.1:p.His365Tyr
XM_011522369.1:c.1051C>T (CCDC78)	XP_011520671.1:p.His351Tyr
XM_011522370.1:c.883C>T (CCDC78)	XP_011520672.1:p.His295Tyr
XM_011522371.1:c.598C>T (CCDC78)	XP_011520673.1:p.His200Tyr
XM_006720843.4:c.1039C>T (CCDC78)	XP_006720906.1:p.His347Tyr
XM_011522358.2:c.1486C>T (CCDC78)	XP_011520660.1:p.His496Tyr
XM_011522371.2:c.598C>T (CCDC78)	XP_011520673.1:p.His200Tyr
XM_017022929.1:c.1486C>T (CCDC78)	XP_016878418.1:p.His496Tyr
XM_017022930.1:c.586C>T (CCDC78)	XP_016878419.1:p.His196Tyr
XM_024450150.1:c.316C>T (CCDC78)	XP_024305918.1:p.His106Tyr
XR_001751835.1:n.1825C>T (CCDC78)
XR_001751836.1:n.1804C>T (CCDC78)
XR_001751837.1:n.1582C>T (CCDC78)
XR_001751838.1:n.1928C>T (CCDC78)
XR_001751839.1:n.1390C>T (CCDC78)
NM_001031737.3:c.1039C>T (CCDC78)	NP_001026907.2:p.His347Tyr
NM_001378030.1:c.1039C>T (CCDC78) MANE Select	NP_001364959.1:p.His347Tyr
NM_001378031.1:c.953+202C>T (CCDC78)	NP_001364960.1:n.953+202C>T
NM_001378033.1:c.472C>T (CCDC78)	NP_001364962.1:p.His158Tyr
NR_165382.1:n.1596C>T (CCDC78)
NR_165383.1:n.1242C>T (CCDC78)
NR_165384.1:n.1207C>T (CCDC78)
NR_165385.1:n.1307C>T (CCDC78)
NR_165386.1:n.1374C>T (CCDC78)