Canonical Allele Identifier: CA4485444
Community Standard Title: NM_018718.3(CEP41):c.867C>T (p.Pro289=)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130400145G>A , CM000669.2:g.130400145G>A GRCh38
NC_000007.13:g.130039986G>A , CM000669.1:g.130039986G>A GRCh37
NC_000007.12:g.129827222G>A NCBI36
NG_032164.1:g.46066C>T
NG_032164.2:g.46066C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.867C>T MANE Select NP_061188.1:p.Pro289=
ENST00000223208.10:c.867C>T MANE Select ENSP00000223208.4:p.Pro289=
NM_001257158.1:c.757+562C>T NP_001244087.1:n.757+562C>T
NM_001257158.2:c.757+562C>T NP_001244087.1:n.757+562C>T
NM_001257159.1:c.709+562C>T NP_001244088.1:n.709+562C>T
NM_001257159.2:c.709+562C>T NP_001244088.1:n.709+562C>T
NM_018718.2:c.867C>T NP_061188.1:p.Pro289=
NR_046443.1:n.1035C>T
NR_046443.2:n.841C>T
ENST00000223208.9:c.867C>T ENSP00000223208.4:p.Pro289=
ENST00000343969.10:c.766+553C>T ENSP00000342738.6:n.766+553C>T
ENST00000343969.9:c.757+562C>T ENSP00000342738.5:n.757+562C>T
ENST00000480206.2:c.*380C>T ENSP00000502099.1:n.*380C>T
ENST00000484549.5:c.*413C>T ENSP00000419078.1:n.*413C>T
ENST00000484549.6:c.*1039C>T ENSP00000419078.2:n.*1039C>T
ENST00000485736.5:n.550C>T
ENST00000492389.6:c.777+562C>T ENSP00000419192.2:n.777+562C>T
ENST00000541543.5:c.709+562C>T ENSP00000445888.1:n.709+562C>T
ENST00000541543.6:c.858C>T ENSP00000445888.2:p.Pro286=
ENST00000603513.1:n.1065C>T
ENST00000674539.1:c.423-1106C>T ENSP00000502834.1:n.423-1106C>T
ENST00000674630.1:c.*413C>T ENSP00000502521.1:n.*413C>T
ENST00000675138.1:c.912C>T ENSP00000501597.1:p.Pro304=
ENST00000675168.1:c.819C>T ENSP00000501563.1:p.Pro273=
ENST00000675328.1:n.677C>T
ENST00000675542.1:n.832C>T
ENST00000675563.1:c.258C>T ENSP00000502483.1:p.Pro86=
ENST00000675596.1:c.757+562C>T ENSP00000501735.1:n.757+562C>T
ENST00000675649.1:c.684C>T ENSP00000502385.1:p.Pro228=
ENST00000675721.1:c.*810C>T ENSP00000502026.1:n.*810C>T
ENST00000675803.1:c.828C>T ENSP00000502477.1:p.Pro276=
ENST00000675813.1:c.*771C>T ENSP00000502785.1:n.*771C>T
ENST00000675935.1:c.858C>T ENSP00000501731.1:p.Pro286=
ENST00000675962.1:c.709+562C>T ENSP00000502478.1:n.709+562C>T
ENST00000676115.1:c.*788C>T ENSP00000502631.1:n.*788C>T
ENST00000676243.1:c.876C>T ENSP00000501717.1:p.Pro292=
ENST00000676312.1:c.828C>T ENSP00000502312.1:p.Pro276=
XM_011516708.1:c.912C>T XP_011515010.1:p.Pro304=
XM_011516709.1:c.762C>T XP_011515011.1:p.Pro254=
XM_011516709.3:c.762C>T XP_011515011.1:p.Pro254=
XM_011516710.1:c.762C>T XP_011515012.1:p.Pro254=
XM_011516710.3:c.762C>T XP_011515012.1:p.Pro254=
XM_011516711.1:c.762C>T XP_011515013.1:p.Pro254=
XM_011516712.1:c.802+562C>T XP_011515014.1:n.802+562C>T
XM_024447004.1:c.828C>T XP_024302772.1:p.Pro276=