Canonical Allele Identifier: CA4485400

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130398973T>C , CM000669.2:g.130398973T>C	GRCh38
NC_000007.13:g.130038814T>C , CM000669.1:g.130038814T>C	GRCh37
NC_000007.12:g.129826050T>C	NCBI36
NG_032164.1:g.47238A>G
NG_032164.2:g.47238A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.1040A>G MANE Select	ENSP00000223208.4:p.Asn347Ser
ENST00000343969.10:c.833A>G	ENSP00000342738.6:p.Asn278Ser
ENST00000480206.2:c.*1552A>G	ENSP00000502099.1:n.*1552A>G
ENST00000484549.6:c.*1212A>G	ENSP00000419078.2:n.*1212A>G
ENST00000492389.6:c.844A>G	ENSP00000419192.2:n.844A>G
ENST00000541543.6:c.1031A>G	ENSP00000445888.2:p.Asn344Ser
ENST00000674539.1:c.*48A>G	ENSP00000502834.1:n.*48A>G
ENST00000674630.1:c.*586A>G	ENSP00000502521.1:n.*586A>G
ENST00000675138.1:c.1085A>G	ENSP00000501597.1:p.Asn362Ser
ENST00000675168.1:c.992A>G	ENSP00000501563.1:p.Asn331Ser
ENST00000675328.1:n.850A>G
ENST00000675542.1:n.1005A>G
ENST00000675563.1:c.431A>G	ENSP00000502483.1:p.Asn144Ser
ENST00000675596.1:c.824A>G	ENSP00000501735.1:p.Asn275Ser
ENST00000675649.1:c.857A>G	ENSP00000502385.1:p.Asn286Ser
ENST00000675721.1:c.*983A>G	ENSP00000502026.1:n.*983A>G
ENST00000675803.1:c.1001A>G	ENSP00000502477.1:p.Asn334Ser
ENST00000675813.1:c.*944A>G	ENSP00000502785.1:n.*944A>G
ENST00000675935.1:c.1031A>G	ENSP00000501731.1:p.Asn344Ser
ENST00000675962.1:c.776A>G	ENSP00000502478.1:p.Asn259Ser
ENST00000676115.1:c.*961A>G	ENSP00000502631.1:n.*961A>G
ENST00000676243.1:c.1049A>G	ENSP00000501717.1:p.Asn350Ser
ENST00000676312.1:c.1001A>G	ENSP00000502312.1:p.Asn334Ser
ENST00000223208.9:c.1040A>G	ENSP00000223208.4:p.Asn347Ser
ENST00000343969.9:c.824A>G	ENSP00000342738.5:p.Asn275Ser
ENST00000484549.5:c.*586A>G	ENSP00000419078.1:n.*586A>G
ENST00000485736.5:n.723A>G
ENST00000541543.5:c.776A>G	ENSP00000445888.1:p.Asn259Ser
ENST00000603513.1:n.2237A>G
NM_001257158.1:c.824A>G	NP_001244087.1:p.Asn275Ser
NM_001257159.1:c.776A>G	NP_001244088.1:p.Asn259Ser
NM_018718.2:c.1040A>G	NP_061188.1:p.Asn347Ser
NR_046443.1:n.1208A>G
XM_011516708.1:c.1085A>G	XP_011515010.1:p.Asn362Ser
XM_011516709.1:c.935A>G	XP_011515011.1:p.Asn312Ser
XM_011516710.1:c.935A>G	XP_011515012.1:p.Asn312Ser
XM_011516711.1:c.935A>G	XP_011515013.1:p.Asn312Ser
XM_011516712.1:c.869A>G	XP_011515014.1:p.Asn290Ser
XM_011516709.3:c.935A>G	XP_011515011.1:p.Asn312Ser
XM_011516710.3:c.935A>G	XP_011515012.1:p.Asn312Ser
XM_024447004.1:c.1001A>G	XP_024302772.1:p.Asn334Ser
NM_018718.3:c.1040A>G MANE Select	NP_061188.1:p.Asn347Ser
NM_001257158.2:c.824A>G	NP_001244087.1:p.Asn275Ser
NR_046443.2:n.1014A>G
NM_001257159.2:c.776A>G	NP_001244088.1:p.Asn259Ser