Canonical Allele Identifier: CA394098878

Gene: CCDC78 MSLN

Linked Data

• dbSNP Id: rs1349461383
• gnomAD v2: 16-774140-G-A
• gnomAD v3: 16-724140-G-A
• gnomAD v4: 16-724140-G-A
• MyVariant Identifiers: chr16:g.774140G>A (hg19) ; chr16:g.724140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.724140G>A , CM000678.2:g.724140G>A	GRCh38
NC_000016.9:g.774140G>A , CM000678.1:g.774140G>A	GRCh37
NC_000016.8:g.714141G>A	NCBI36
NG_032932.1:g.7334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1562C>T (CCDC78)
ENST00000345165.10:c.1019C>T (CCDC78) MANE Select	ENSP00000316851.5:p.Pro340Leu
ENST00000293889.10:c.1019C>T (CCDC78)	ENSP00000293889.6:p.Pro340Leu
ENST00000345165.8:c.565C>T (CCDC78)
ENST00000463539.5:n.1341C>T (CCDC78)
ENST00000466708.5:n.1363C>T (CCDC78)
ENST00000478979.5:n.1497C>T (CCDC78)
ENST00000481804.5:n.1997C>T (CCDC78)
ENST00000482152.1:n.380C>T (CCDC78)
ENST00000482878.5:n.1900C>T (CCDC78)
ENST00000485091.5:n.1172C>T (CCDC78)
ENST00000620831.4:c.-49-38492G>A (MSLN)	ENSP00000482893.1:n.-49-38492G>A
NM_001031737.2:c.1019C>T (CCDC78)	NP_001026907.2:p.Pro340Leu
XM_006720838.1:c.1241C>T (CCDC78)	XP_006720901.1:p.Pro414Leu
XM_006720843.2:c.1019C>T (CCDC78)	XP_006720906.1:p.Pro340Leu
XM_011522356.1:c.1466C>T (CCDC78)	XP_011520658.1:p.Pro489Leu
XM_011522357.1:c.1454C>T (CCDC78)	XP_011520659.1:p.Pro485Leu
XM_011522358.1:c.1466C>T (CCDC78)	XP_011520660.1:p.Pro489Leu
XM_011522359.1:c.1433C>T (CCDC78)	XP_011520661.1:p.Pro478Leu
XM_011522360.1:c.1421C>T (CCDC78)	XP_011520662.1:p.Pro474Leu
XM_011522361.1:c.1466C>T (CCDC78)	XP_011520663.1:p.Pro489Leu
XM_011522362.1:c.1466C>T (CCDC78)	XP_011520664.1:p.Pro489Leu
XM_011522363.1:c.1466C>T (CCDC78)	XP_011520665.1:p.Pro489Leu
XM_011522364.1:c.1466C>T (CCDC78)	XP_011520666.1:p.Pro489Leu
XM_011522365.1:c.1253C>T (CCDC78)	XP_011520667.1:p.Pro418Leu
XM_011522366.1:c.1244C>T (CCDC78)	XP_011520668.1:p.Pro415Leu
XM_011522367.1:c.1085C>T (CCDC78)	XP_011520669.1:p.Pro362Leu
XM_011522368.1:c.1073C>T (CCDC78)	XP_011520670.1:p.Pro358Leu
XM_011522369.1:c.1031C>T (CCDC78)	XP_011520671.1:p.Pro344Leu
XM_011522370.1:c.863C>T (CCDC78)	XP_011520672.1:p.Pro288Leu
XM_011522371.1:c.578C>T (CCDC78)	XP_011520673.1:p.Pro193Leu
XM_006720843.4:c.1019C>T (CCDC78)	XP_006720906.1:p.Pro340Leu
XM_011522358.2:c.1466C>T (CCDC78)	XP_011520660.1:p.Pro489Leu
XM_011522371.2:c.578C>T (CCDC78)	XP_011520673.1:p.Pro193Leu
XM_017022929.1:c.1466C>T (CCDC78)	XP_016878418.1:p.Pro489Leu
XM_017022930.1:c.566C>T (CCDC78)	XP_016878419.1:p.Pro189Leu
XM_024450150.1:c.296C>T (CCDC78)	XP_024305918.1:p.Pro99Leu
XR_001751835.1:n.1805C>T (CCDC78)
XR_001751836.1:n.1784C>T (CCDC78)
XR_001751837.1:n.1562C>T (CCDC78)
XR_001751838.1:n.1908C>T (CCDC78)
XR_001751839.1:n.1370C>T (CCDC78)
NM_001031737.3:c.1019C>T (CCDC78)	NP_001026907.2:p.Pro340Leu
NM_001378030.1:c.1019C>T (CCDC78) MANE Select	NP_001364959.1:p.Pro340Leu
NM_001378031.1:c.953+182C>T (CCDC78)	NP_001364960.1:n.953+182C>T
NM_001378033.1:c.452C>T (CCDC78)	NP_001364962.1:p.Pro151Leu
NR_165382.1:n.1576C>T (CCDC78)
NR_165383.1:n.1222C>T (CCDC78)
NR_165384.1:n.1187C>T (CCDC78)
NR_165385.1:n.1287C>T (CCDC78)
NR_165386.1:n.1354C>T (CCDC78)