Canonical Allele Identifier: CA7789257

Linked Data

dbSNP Id: rs776814118
gnomAD v2: 16-773893-G-A
gnomAD v4: 16-723893-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.723893G>A , CM000678.2:g.723893G>A GRCh38
NC_000016.9:g.773893G>A , CM000678.1:g.773893G>A GRCh37
NC_000016.8:g.713894G>A NCBI36
NG_032932.1:g.7581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682391.1:n.1640C>T (CCDC78)
ENST00000345165.10:c.1097C>T (CCDC78) MANE Select ENSP00000316851.5:p.Pro366Leu
ENST00000293889.10:c.1097C>T (CCDC78) ENSP00000293889.6:p.Pro366Leu
ENST00000345165.8:c.643C>T (CCDC78)
ENST00000463539.5:n.1419C>T (CCDC78)
ENST00000466708.5:n.1441C>T (CCDC78)
ENST00000478979.5:n.1744C>T (CCDC78)
ENST00000481804.5:n.2075C>T (CCDC78)
ENST00000482152.1:n.458C>T (CCDC78)
ENST00000482878.5:n.2147C>T (CCDC78)
ENST00000485091.5:n.1250C>T (CCDC78)
ENST00000620831.4:c.-49-38739G>A (MSLN) ENSP00000482893.1:n.-49-38739G>A
NM_001031737.2:c.1097C>T (CCDC78) NP_001026907.2:p.Pro366Leu
XM_006720838.1:c.1319C>T (CCDC78) XP_006720901.1:p.Pro440Leu
XM_006720843.2:c.1097C>T (CCDC78) XP_006720906.1:p.Pro366Leu
XM_011522356.1:c.1544C>T (CCDC78) XP_011520658.1:p.Pro515Leu
XM_011522357.1:c.1532C>T (CCDC78) XP_011520659.1:p.Pro511Leu
XM_011522358.1:c.1544C>T (CCDC78) XP_011520660.1:p.Pro515Leu
XM_011522359.1:c.1511C>T (CCDC78) XP_011520661.1:p.Pro504Leu
XM_011522360.1:c.1499C>T (CCDC78) XP_011520662.1:p.Pro500Leu
XM_011522361.1:c.1544C>T (CCDC78) XP_011520663.1:p.Pro515Leu
XM_011522362.1:c.1544C>T (CCDC78) XP_011520664.1:p.Pro515Leu
XM_011522363.1:c.1544C>T (CCDC78) XP_011520665.1:p.Pro515Leu
XM_011522364.1:c.1544C>T (CCDC78) XP_011520666.1:p.Pro515Leu
XM_011522365.1:c.1331C>T (CCDC78) XP_011520667.1:p.Pro444Leu
XM_011522366.1:c.1322C>T (CCDC78) XP_011520668.1:p.Pro441Leu
XM_011522367.1:c.1163C>T (CCDC78) XP_011520669.1:p.Pro388Leu
XM_011522368.1:c.1151C>T (CCDC78) XP_011520670.1:p.Pro384Leu
XM_011522369.1:c.1109C>T (CCDC78) XP_011520671.1:p.Pro370Leu
XM_011522370.1:c.941C>T (CCDC78) XP_011520672.1:p.Pro314Leu
XM_011522371.1:c.656C>T (CCDC78) XP_011520673.1:p.Pro219Leu
XM_006720843.4:c.1097C>T (CCDC78) XP_006720906.1:p.Pro366Leu
XM_011522358.2:c.1544C>T (CCDC78) XP_011520660.1:p.Pro515Leu
XM_011522371.2:c.656C>T (CCDC78) XP_011520673.1:p.Pro219Leu
XM_017022929.1:c.1544C>T (CCDC78) XP_016878418.1:p.Pro515Leu
XM_017022930.1:c.644C>T (CCDC78) XP_016878419.1:p.Pro215Leu
XM_017022931.1:c.-157C>T (CCDC78) XP_016878420.1:n.-157C>T
XM_024450150.1:c.374C>T (CCDC78) XP_024305918.1:p.Pro125Leu
XR_001751835.1:n.1883C>T (CCDC78)
XR_001751836.1:n.1862C>T (CCDC78)
XR_001751837.1:n.1640C>T (CCDC78)
XR_001751838.1:n.1986C>T (CCDC78)
XR_001751839.1:n.1448C>T (CCDC78)
NM_001031737.3:c.1097C>T (CCDC78) NP_001026907.2:p.Pro366Leu
NM_001378030.1:c.1097C>T (CCDC78) MANE Select NP_001364959.1:p.Pro366Leu
NM_001378031.1:c.953+429C>T (CCDC78) NP_001364960.1:n.953+429C>T
NM_001378033.1:c.530C>T (CCDC78) NP_001364962.1:p.Pro177Leu
NR_165382.1:n.1654C>T (CCDC78)
NR_165383.1:n.1300C>T (CCDC78)
NR_165384.1:n.1265C>T (CCDC78)
NR_165385.1:n.1365C>T (CCDC78)
NR_165386.1:n.1432C>T (CCDC78)