Canonical Allele Identifier: CA369287088
Gene: CEP41 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.130400119T>C , CM000669.2:g.130400119T>C GRCh38
NC_000007.13:g.130039960T>C , CM000669.1:g.130039960T>C GRCh37
NC_000007.12:g.129827196T>C NCBI36
NG_032164.1:g.46092A>G
NG_032164.2:g.46092A>G

Transcript Alleles

HGVS Amino-acid Change
NM_018718.3:c.893A>G MANE Select NP_061188.1:p.Asn298Ser
ENST00000223208.10:c.893A>G MANE Select ENSP00000223208.4:p.Asn298Ser
NM_001257158.1:c.757+588A>G NP_001244087.1:n.757+588A>G
NM_001257158.2:c.757+588A>G NP_001244087.1:n.757+588A>G
NM_001257159.1:c.709+588A>G NP_001244088.1:n.709+588A>G
NM_001257159.2:c.709+588A>G NP_001244088.1:n.709+588A>G
NM_018718.2:c.893A>G NP_061188.1:p.Asn298Ser
NR_046443.1:n.1061A>G
NR_046443.2:n.867A>G
ENST00000223208.9:c.893A>G ENSP00000223208.4:p.Asn298Ser
ENST00000343969.10:c.766+579A>G ENSP00000342738.6:n.766+579A>G
ENST00000343969.9:c.757+588A>G ENSP00000342738.5:n.757+588A>G
ENST00000480206.2:c.*406A>G ENSP00000502099.1:n.*406A>G
ENST00000484549.5:c.*439A>G ENSP00000419078.1:n.*439A>G
ENST00000484549.6:c.*1065A>G ENSP00000419078.2:n.*1065A>G
ENST00000485736.5:n.576A>G
ENST00000492389.6:c.777+588A>G ENSP00000419192.2:n.777+588A>G
ENST00000541543.5:c.709+588A>G ENSP00000445888.1:n.709+588A>G
ENST00000541543.6:c.884A>G ENSP00000445888.2:p.Asn295Ser
ENST00000603513.1:n.1091A>G
ENST00000674539.1:c.423-1080A>G ENSP00000502834.1:n.423-1080A>G
ENST00000674630.1:c.*439A>G ENSP00000502521.1:n.*439A>G
ENST00000675138.1:c.938A>G ENSP00000501597.1:p.Asn313Ser
ENST00000675168.1:c.845A>G ENSP00000501563.1:p.Asn282Ser
ENST00000675328.1:n.703A>G
ENST00000675542.1:n.858A>G
ENST00000675563.1:c.284A>G ENSP00000502483.1:p.Asn95Ser
ENST00000675596.1:c.757+588A>G ENSP00000501735.1:n.757+588A>G
ENST00000675649.1:c.710A>G ENSP00000502385.1:p.Asn237Ser
ENST00000675721.1:c.*836A>G ENSP00000502026.1:n.*836A>G
ENST00000675803.1:c.854A>G ENSP00000502477.1:p.Asn285Ser
ENST00000675813.1:c.*797A>G ENSP00000502785.1:n.*797A>G
ENST00000675935.1:c.884A>G ENSP00000501731.1:p.Asn295Ser
ENST00000675962.1:c.709+588A>G ENSP00000502478.1:n.709+588A>G
ENST00000676115.1:c.*814A>G ENSP00000502631.1:n.*814A>G
ENST00000676243.1:c.902A>G ENSP00000501717.1:p.Asn301Ser
ENST00000676312.1:c.854A>G ENSP00000502312.1:p.Asn285Ser
XM_011516708.1:c.938A>G XP_011515010.1:p.Asn313Ser
XM_011516709.1:c.788A>G XP_011515011.1:p.Asn263Ser
XM_011516709.3:c.788A>G XP_011515011.1:p.Asn263Ser
XM_011516710.1:c.788A>G XP_011515012.1:p.Asn263Ser
XM_011516710.3:c.788A>G XP_011515012.1:p.Asn263Ser
XM_011516711.1:c.788A>G XP_011515013.1:p.Asn263Ser
XM_011516712.1:c.802+588A>G XP_011515014.1:n.802+588A>G
XM_024447004.1:c.854A>G XP_024302772.1:p.Asn285Ser