Canonical Allele Identifier: CA394098481

Gene: CCDC78 MSLN

Linked Data

• dbSNP Id: rs1310977187
• gnomAD v2: 16-773921-C-A
• gnomAD v4: 16-723921-C-A
• MyVariant Identifiers: chr16:g.773921C>A (hg19) ; chr16:g.723921C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.723921C>A , CM000678.2:g.723921C>A	GRCh38
NC_000016.9:g.773921C>A , CM000678.1:g.773921C>A	GRCh37
NC_000016.8:g.713922C>A	NCBI36
NG_032932.1:g.7553G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682391.1:n.1612G>T (CCDC78)
ENST00000345165.10:c.1069G>T (CCDC78) MANE Select	ENSP00000316851.5:p.Ala357Ser
ENST00000293889.10:c.1069G>T (CCDC78)	ENSP00000293889.6:p.Ala357Ser
ENST00000345165.8:c.615G>T (CCDC78)
ENST00000463539.5:n.1391G>T (CCDC78)
ENST00000466708.5:n.1413G>T (CCDC78)
ENST00000478979.5:n.1716G>T (CCDC78)
ENST00000481804.5:n.2047G>T (CCDC78)
ENST00000482152.1:n.430G>T (CCDC78)
ENST00000482878.5:n.2119G>T (CCDC78)
ENST00000485091.5:n.1222G>T (CCDC78)
ENST00000620831.4:c.-49-38711C>A (MSLN)	ENSP00000482893.1:n.-49-38711C>A
NM_001031737.2:c.1069G>T (CCDC78)	NP_001026907.2:p.Ala357Ser
XM_006720838.1:c.1291G>T (CCDC78)	XP_006720901.1:p.Ala431Ser
XM_006720843.2:c.1069G>T (CCDC78)	XP_006720906.1:p.Ala357Ser
XM_011522356.1:c.1516G>T (CCDC78)	XP_011520658.1:p.Ala506Ser
XM_011522357.1:c.1504G>T (CCDC78)	XP_011520659.1:p.Ala502Ser
XM_011522358.1:c.1516G>T (CCDC78)	XP_011520660.1:p.Ala506Ser
XM_011522359.1:c.1483G>T (CCDC78)	XP_011520661.1:p.Ala495Ser
XM_011522360.1:c.1471G>T (CCDC78)	XP_011520662.1:p.Ala491Ser
XM_011522361.1:c.1516G>T (CCDC78)	XP_011520663.1:p.Ala506Ser
XM_011522362.1:c.1516G>T (CCDC78)	XP_011520664.1:p.Ala506Ser
XM_011522363.1:c.1516G>T (CCDC78)	XP_011520665.1:p.Ala506Ser
XM_011522364.1:c.1516G>T (CCDC78)	XP_011520666.1:p.Ala506Ser
XM_011522365.1:c.1303G>T (CCDC78)	XP_011520667.1:p.Ala435Ser
XM_011522366.1:c.1294G>T (CCDC78)	XP_011520668.1:p.Ala432Ser
XM_011522367.1:c.1135G>T (CCDC78)	XP_011520669.1:p.Ala379Ser
XM_011522368.1:c.1123G>T (CCDC78)	XP_011520670.1:p.Ala375Ser
XM_011522369.1:c.1081G>T (CCDC78)	XP_011520671.1:p.Ala361Ser
XM_011522370.1:c.913G>T (CCDC78)	XP_011520672.1:p.Ala305Ser
XM_011522371.1:c.628G>T (CCDC78)	XP_011520673.1:p.Ala210Ser
XM_006720843.4:c.1069G>T (CCDC78)	XP_006720906.1:p.Ala357Ser
XM_011522358.2:c.1516G>T (CCDC78)	XP_011520660.1:p.Ala506Ser
XM_011522371.2:c.628G>T (CCDC78)	XP_011520673.1:p.Ala210Ser
XM_017022929.1:c.1516G>T (CCDC78)	XP_016878418.1:p.Ala506Ser
XM_017022930.1:c.616G>T (CCDC78)	XP_016878419.1:p.Ala206Ser
XM_017022931.1:c.-185G>T (CCDC78)	XP_016878420.1:n.-185G>T
XM_024450150.1:c.346G>T (CCDC78)	XP_024305918.1:p.Ala116Ser
XR_001751835.1:n.1855G>T (CCDC78)
XR_001751836.1:n.1834G>T (CCDC78)
XR_001751837.1:n.1612G>T (CCDC78)
XR_001751838.1:n.1958G>T (CCDC78)
XR_001751839.1:n.1420G>T (CCDC78)
NM_001031737.3:c.1069G>T (CCDC78)	NP_001026907.2:p.Ala357Ser
NM_001378030.1:c.1069G>T (CCDC78) MANE Select	NP_001364959.1:p.Ala357Ser
NM_001378031.1:c.953+401G>T (CCDC78)	NP_001364960.1:n.953+401G>T
NM_001378033.1:c.502G>T (CCDC78)	NP_001364962.1:p.Ala168Ser
NR_165382.1:n.1626G>T (CCDC78)
NR_165383.1:n.1272G>T (CCDC78)
NR_165384.1:n.1237G>T (CCDC78)
NR_165385.1:n.1337G>T (CCDC78)
NR_165386.1:n.1404G>T (CCDC78)