Canonical Allele Identifier: CA4485482

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130400726G>A , CM000669.2:g.130400726G>A	GRCh38
NC_000007.13:g.130040567G>A , CM000669.1:g.130040567G>A	GRCh37
NC_000007.12:g.129827803G>A	NCBI36
NG_032164.1:g.45485C>T
NG_032164.2:g.45485C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.738C>T MANE Select	ENSP00000223208.4:p.Asn246=
ENST00000343969.10:c.738C>T	ENSP00000342738.6:p.Asn246=
ENST00000471201.6:c.951C>T	ENSP00000417463.2:p.Asn317=
ENST00000472739.6:c.633C>T	ENSP00000417593.2:p.Asn211=
ENST00000475282.6:c.633C>T	ENSP00000418363.2:p.Asn211=
ENST00000477003.6:c.*340C>T	ENSP00000420670.2:n.*340C>T
ENST00000480206.2:c.738C>T	ENSP00000502099.1:p.Asn246=
ENST00000484549.6:c.*910C>T	ENSP00000419078.2:n.*910C>T
ENST00000492389.6:c.758C>T	ENSP00000419192.2:n.758C>T
ENST00000541543.6:c.729C>T	ENSP00000445888.2:p.Asn243=
ENST00000674539.1:c.423-1687C>T	ENSP00000502834.1:n.423-1687C>T
ENST00000674630.1:c.*284C>T	ENSP00000502521.1:n.*284C>T
ENST00000675138.1:c.783C>T	ENSP00000501597.1:p.Asn261=
ENST00000675168.1:c.690C>T	ENSP00000501563.1:p.Asn230=
ENST00000675328.1:n.548C>T
ENST00000675542.1:n.703C>T
ENST00000675563.1:c.129C>T	ENSP00000502483.1:p.Asn43=
ENST00000675596.1:c.738C>T	ENSP00000501735.1:p.Asn246=
ENST00000675649.1:c.575-472C>T	ENSP00000502385.1:n.575-472C>T
ENST00000675721.1:c.*681C>T	ENSP00000502026.1:n.*681C>T
ENST00000675803.1:c.699C>T	ENSP00000502477.1:p.Asn233=
ENST00000675813.1:c.*642C>T	ENSP00000502785.1:n.*642C>T
ENST00000675935.1:c.729C>T	ENSP00000501731.1:p.Asn243=
ENST00000675962.1:c.690C>T	ENSP00000502478.1:p.Asn230=
ENST00000676115.1:c.*659C>T	ENSP00000502631.1:n.*659C>T
ENST00000676243.1:c.738C>T	ENSP00000501717.1:p.Asn246=
ENST00000676312.1:c.699C>T	ENSP00000502312.1:p.Asn233=
ENST00000223208.9:c.738C>T	ENSP00000223208.4:p.Asn246=
ENST00000343969.9:c.738C>T	ENSP00000342738.5:p.Asn246=
ENST00000480206.1:n.203C>T
ENST00000484549.5:c.*284C>T	ENSP00000419078.1:n.*284C>T
ENST00000485736.5:n.421C>T
ENST00000541543.5:c.690C>T	ENSP00000445888.1:p.Asn230=
ENST00000603513.1:n.484C>T
NM_001257158.1:c.738C>T	NP_001244087.1:p.Asn246=
NM_001257159.1:c.690C>T	NP_001244088.1:p.Asn230=
NM_018718.2:c.738C>T	NP_061188.1:p.Asn246=
NR_046443.1:n.906C>T
XM_011516708.1:c.783C>T	XP_011515010.1:p.Asn261=
XM_011516709.1:c.633C>T	XP_011515011.1:p.Asn211=
XM_011516710.1:c.633C>T	XP_011515012.1:p.Asn211=
XM_011516711.1:c.633C>T	XP_011515013.1:p.Asn211=
XM_011516712.1:c.783C>T	XP_011515014.1:p.Asn261=
XM_011516709.3:c.633C>T	XP_011515011.1:p.Asn211=
XM_011516710.3:c.633C>T	XP_011515012.1:p.Asn211=
XM_024447004.1:c.699C>T	XP_024302772.1:p.Asn233=
NM_018718.3:c.738C>T MANE Select	NP_061188.1:p.Asn246=
NM_001257158.2:c.738C>T	NP_001244087.1:p.Asn246=
NR_046443.2:n.712C>T
NM_001257159.2:c.690C>T	NP_001244088.1:p.Asn230=