Canonical Allele Identifier: CA551522

Gene: CEP104

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3831062A>G , CM000663.2:g.3831062A>G	GRCh38
NC_000001.10:g.3747626A>G , CM000663.1:g.3747626A>G	GRCh37
NC_000001.9:g.3737486A>G	NCBI36
NG_046726.1:g.31172T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014704.4:c.1820T>C MANE Select	NP_055519.1:p.Ile607Thr
ENST00000378230.8:c.1820T>C MANE Select	ENSP00000367476.3:p.Ile607Thr
NM_014704.3:c.1820T>C	NP_055519.1:p.Ile607Thr
ENST00000378230.7:c.1820T>C	ENSP00000367476.3:p.Ile607Thr
ENST00000428079.6:c.1820T>C	ENSP00000394989.2:p.Ile607Thr
ENST00000438539.6:n.867T>C
ENST00000461667.2:c.1820T>C	ENSP00000463605.2:p.Ile607Thr
ENST00000495701.1:n.163T>C
ENST00000674544.1:c.1646T>C	ENSP00000502641.1:p.Ile549Thr
ENST00000674558.1:c.1820T>C	ENSP00000501829.1:p.Ile607Thr
ENST00000674623.1:c.1820T>C	ENSP00000501733.1:p.Ile607Thr
ENST00000674879.1:n.2756T>C
ENST00000674985.1:c.*678T>C	ENSP00000502482.1:n.*678T>C
ENST00000675108.1:c.*1736T>C	ENSP00000502131.1:n.*1736T>C
ENST00000675200.1:c.1646T>C	ENSP00000502512.1:p.Ile549Thr
ENST00000675334.1:n.1624T>C
ENST00000675375.1:c.1646T>C	ENSP00000502180.1:p.Ile549Thr
ENST00000675666.1:c.1820T>C	ENSP00000502548.1:p.Ile607Thr
ENST00000675677.1:c.1622T>C	ENSP00000501944.1:p.Ile541Thr
ENST00000675750.1:c.*1149T>C	ENSP00000502342.1:n.*1149T>C
ENST00000675966.1:n.3492T>C
ENST00000676009.1:c.1820T>C	ENSP00000502246.1:p.Ile607Thr
ENST00000676052.1:c.1838T>C	ENSP00000502793.1:p.Ile613Thr
XM_005244815.3:c.1928T>C	XP_005244872.1:p.Ile643Thr
XM_005244815.4:c.1928T>C	XP_005244872.1:p.Ile643Thr
XM_011542473.1:c.1946T>C	XP_011540775.1:p.Ile649Thr
XM_011542474.1:c.1838T>C	XP_011540776.1:p.Ile613Thr
XM_011542474.3:c.1838T>C	XP_011540776.1:p.Ile613Thr
XM_011542475.1:c.1772T>C	XP_011540777.1:p.Ile591Thr
XM_011542476.1:c.1748T>C	XP_011540778.1:p.Ile583Thr
XM_011542477.1:c.1574T>C	XP_011540779.1:p.Ile525Thr
XM_011542478.1:c.1946T>C	XP_011540780.1:p.Ile649Thr
XM_017002918.2:c.1646T>C	XP_016858407.1:p.Ile549Thr
XM_017002919.2:c.1622T>C	XP_016858408.1:p.Ile541Thr
XM_024451101.1:c.1946T>C	XP_024306869.1:p.Ile649Thr
XM_024451102.1:c.1772T>C	XP_024306870.1:p.Ile591Thr
XM_024451103.1:c.1754T>C	XP_024306871.1:p.Ile585Thr
XM_024451104.1:c.1748T>C	XP_024306872.1:p.Ile583Thr
XM_024451106.1:c.1574T>C	XP_024306874.1:p.Ile525Thr
XM_024451108.1:c.1946T>C	XP_024306876.1:p.Ile649Thr