Canonical Allele Identifier: CA457653543
Community Standard Title: NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130398971G>A , CM000669.2:g.130398971G>A GRCh38
NC_000007.13:g.130038812G>A , CM000669.1:g.130038812G>A GRCh37
NC_000007.12:g.129826048G>A NCBI36
NG_032164.1:g.47240C>T
NG_032164.2:g.47240C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.1042C>T MANE Select NP_061188.1:p.Leu348=
ENST00000223208.10:c.1042C>T MANE Select ENSP00000223208.4:p.Leu348=
NM_001257158.1:c.826C>T NP_001244087.1:p.Leu276=
NM_001257158.2:c.826C>T NP_001244087.1:p.Leu276=
NM_001257159.1:c.778C>T NP_001244088.1:p.Leu260=
NM_001257159.2:c.778C>T NP_001244088.1:p.Leu260=
NM_018718.2:c.1042C>T NP_061188.1:p.Leu348=
NR_046443.1:n.1210C>T
NR_046443.2:n.1016C>T
ENST00000223208.9:c.1042C>T ENSP00000223208.4:p.Leu348=
ENST00000343969.10:c.835C>T ENSP00000342738.6:p.Leu279=
ENST00000343969.9:c.826C>T ENSP00000342738.5:p.Leu276=
ENST00000480206.2:c.*1554C>T ENSP00000502099.1:n.*1554C>T
ENST00000484549.5:c.*588C>T ENSP00000419078.1:n.*588C>T
ENST00000484549.6:c.*1214C>T ENSP00000419078.2:n.*1214C>T
ENST00000485736.5:n.725C>T
ENST00000492389.6:c.846C>T ENSP00000419192.2:n.846C>T
ENST00000541543.5:c.778C>T ENSP00000445888.1:p.Leu260=
ENST00000541543.6:c.1033C>T ENSP00000445888.2:p.Leu345=
ENST00000603513.1:n.2239C>T
ENST00000674539.1:c.*50C>T ENSP00000502834.1:n.*50C>T
ENST00000674630.1:c.*588C>T ENSP00000502521.1:n.*588C>T
ENST00000675138.1:c.1087C>T ENSP00000501597.1:p.Leu363=
ENST00000675168.1:c.994C>T ENSP00000501563.1:p.Leu332=
ENST00000675328.1:n.852C>T
ENST00000675542.1:n.1007C>T
ENST00000675563.1:c.433C>T ENSP00000502483.1:p.Leu145=
ENST00000675596.1:c.826C>T ENSP00000501735.1:p.Leu276=
ENST00000675649.1:c.859C>T ENSP00000502385.1:p.Leu287=
ENST00000675721.1:c.*985C>T ENSP00000502026.1:n.*985C>T
ENST00000675803.1:c.1003C>T ENSP00000502477.1:p.Leu335=
ENST00000675813.1:c.*946C>T ENSP00000502785.1:n.*946C>T
ENST00000675935.1:c.1033C>T ENSP00000501731.1:p.Leu345=
ENST00000675962.1:c.778C>T ENSP00000502478.1:p.Leu260=
ENST00000676115.1:c.*963C>T ENSP00000502631.1:n.*963C>T
ENST00000676243.1:c.1051C>T ENSP00000501717.1:p.Leu351=
ENST00000676312.1:c.1003C>T ENSP00000502312.1:p.Leu335=
XM_011516708.1:c.1087C>T XP_011515010.1:p.Leu363=
XM_011516709.1:c.937C>T XP_011515011.1:p.Leu313=
XM_011516709.3:c.937C>T XP_011515011.1:p.Leu313=
XM_011516710.1:c.937C>T XP_011515012.1:p.Leu313=
XM_011516710.3:c.937C>T XP_011515012.1:p.Leu313=
XM_011516711.1:c.937C>T XP_011515013.1:p.Leu313=
XM_011516712.1:c.871C>T XP_011515014.1:p.Leu291=
XM_024447004.1:c.1003C>T XP_024302772.1:p.Leu335=