Canonical Allele Identifier: CA384629684
Community Standard Title: NM_033124.5(CCDC65):c.718C>T (p.Arg240Ter)
Gene: CCDC65 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.48918383C>T , CM000674.2:g.48918383C>T GRCh38
NC_000012.11:g.49312166C>T , CM000674.1:g.49312166C>T GRCh37
NC_000012.10:g.47598433C>T NCBI36
NG_033837.1:g.19274C>T

Transcript Alleles

HGVS Amino-acid Change
NM_033124.5:c.718C>T MANE Select NP_149115.2:p.Arg240Ter
ENST00000320516.5:c.718C>T MANE Select ENSP00000312706.4:p.Arg240Ter
NM_001286957.1:c.289C>T NP_001273886.1:p.Arg97Ter
NM_001286957.2:c.289C>T NP_001273886.1:p.Arg97Ter
NM_033124.4:c.718C>T NP_149115.2:p.Arg240Ter
ENST00000266984.9:c.718C>T ENSP00000266984.5:p.Arg240Ter
ENST00000320516.4:c.718C>T ENSP00000312706.4:p.Arg240Ter
ENST00000398092.4:c.385-14475G>A ENSP00000438507.1:n.385-14475G>A
ENST00000547861.5:c.*549C>T ENSP00000447157.1:n.*549C>T
ENST00000552188.1:n.240C>T
ENST00000552942.5:c.409C>T ENSP00000446569.1:p.Arg137Ter
XM_011538908.1:c.745C>T XP_011537210.1:p.Arg249Ter