Canonical Allele Identifier: CA457653913

Gene: CEP41

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.130400181G>A , CM000669.2:g.130400181G>A	GRCh38
NC_000007.13:g.130040022G>A , CM000669.1:g.130040022G>A	GRCh37
NC_000007.12:g.129827258G>A	NCBI36
NG_032164.1:g.46030C>T
NG_032164.2:g.46030C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223208.10:c.831C>T MANE Select	ENSP00000223208.4:p.Ala277=
ENST00000343969.10:c.766+517C>T	ENSP00000342738.6:n.766+517C>T
ENST00000480206.2:c.*344C>T	ENSP00000502099.1:n.*344C>T
ENST00000484549.6:c.*1003C>T	ENSP00000419078.2:n.*1003C>T
ENST00000492389.6:c.777+526C>T	ENSP00000419192.2:n.777+526C>T
ENST00000541543.6:c.822C>T	ENSP00000445888.2:p.Ala274=
ENST00000674539.1:c.423-1142C>T	ENSP00000502834.1:n.423-1142C>T
ENST00000674630.1:c.*377C>T	ENSP00000502521.1:n.*377C>T
ENST00000675138.1:c.876C>T	ENSP00000501597.1:p.Ala292=
ENST00000675168.1:c.783C>T	ENSP00000501563.1:p.Ala261=
ENST00000675328.1:n.641C>T
ENST00000675542.1:n.796C>T
ENST00000675563.1:c.222C>T	ENSP00000502483.1:p.Ala74=
ENST00000675596.1:c.757+526C>T	ENSP00000501735.1:n.757+526C>T
ENST00000675649.1:c.648C>T	ENSP00000502385.1:p.Ala216=
ENST00000675721.1:c.*774C>T	ENSP00000502026.1:n.*774C>T
ENST00000675803.1:c.792C>T	ENSP00000502477.1:p.Ala264=
ENST00000675813.1:c.*735C>T	ENSP00000502785.1:n.*735C>T
ENST00000675935.1:c.822C>T	ENSP00000501731.1:p.Ala274=
ENST00000675962.1:c.709+526C>T	ENSP00000502478.1:n.709+526C>T
ENST00000676115.1:c.*752C>T	ENSP00000502631.1:n.*752C>T
ENST00000676243.1:c.840C>T	ENSP00000501717.1:p.Ala280=
ENST00000676312.1:c.792C>T	ENSP00000502312.1:p.Ala264=
ENST00000223208.9:c.831C>T	ENSP00000223208.4:p.Ala277=
ENST00000343969.9:c.757+526C>T	ENSP00000342738.5:n.757+526C>T
ENST00000484549.5:c.*377C>T	ENSP00000419078.1:n.*377C>T
ENST00000485736.5:n.514C>T
ENST00000541543.5:c.709+526C>T	ENSP00000445888.1:n.709+526C>T
ENST00000603513.1:n.1029C>T
NM_001257158.1:c.757+526C>T	NP_001244087.1:n.757+526C>T
NM_001257159.1:c.709+526C>T	NP_001244088.1:n.709+526C>T
NM_018718.2:c.831C>T	NP_061188.1:p.Ala277=
NR_046443.1:n.999C>T
XM_011516708.1:c.876C>T	XP_011515010.1:p.Ala292=
XM_011516709.1:c.726C>T	XP_011515011.1:p.Ala242=
XM_011516710.1:c.726C>T	XP_011515012.1:p.Ala242=
XM_011516711.1:c.726C>T	XP_011515013.1:p.Ala242=
XM_011516712.1:c.802+526C>T	XP_011515014.1:n.802+526C>T
XM_011516709.3:c.726C>T	XP_011515011.1:p.Ala242=
XM_011516710.3:c.726C>T	XP_011515012.1:p.Ala242=
XM_024447004.1:c.792C>T	XP_024302772.1:p.Ala264=
NM_018718.3:c.831C>T MANE Select	NP_061188.1:p.Ala277=
NM_001257158.2:c.757+526C>T	NP_001244087.1:n.757+526C>T
NR_046443.2:n.805C>T
NM_001257159.2:c.709+526C>T	NP_001244088.1:n.709+526C>T