Canonical Allele Identifier: CA2010603

Gene: CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181548800A>G , CM000664.2:g.181548800A>G	GRCh38
NC_000002.11:g.182413527A>G , CM000664.1:g.182413527A>G	GRCh37
NC_000002.10:g.182121772A>G	NCBI36
NG_021178.1:g.113308T>C
NG_021178.2:g.113308T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_201548.5:c.953T>C MANE Select	NP_963842.1:p.Phe318Ser
ENST00000410087.8:c.953T>C MANE Select	ENSP00000386725.3:p.Phe318Ser
NM_001030311.2:c.1031T>C	NP_001025482.1:p.Phe344Ser
NM_001030311.3:c.1031T>C	NP_001025482.1:p.Phe344Ser
NM_001030312.2:c.614T>C	NP_001025483.1:p.Phe205Ser
NM_001030312.3:c.614T>C	NP_001025483.1:p.Phe205Ser
NM_001030313.2:c.746T>C	NP_001025484.1:p.Phe249Ser
NM_001030313.3:c.746T>C	NP_001025484.1:p.Phe249Ser
NM_001160277.1:c.899T>C	NP_001153749.1:p.Phe300Ser
NM_001160277.2:c.899T>C	NP_001153749.1:p.Phe300Ser
NM_201548.4:c.953T>C	NP_963842.1:p.Phe318Ser
NR_027689.1:n.858T>C
NR_027689.2:n.856T>C
NR_027690.1:n.990T>C
NR_027690.2:n.988T>C
ENST00000339098.9:c.1031T>C	ENSP00000341159.5:p.Phe344Ser
ENST00000374967.6:c.889T>C	ENSP00000364106.2:n.889T>C
ENST00000374969.6:c.614T>C	ENSP00000364108.2:p.Phe205Ser
ENST00000374970.6:c.746T>C	ENSP00000364109.2:p.Phe249Ser
ENST00000409440.7:c.899T>C	ENSP00000387080.3:p.Phe300Ser
ENST00000410087.7:c.953T>C	ENSP00000386725.3:p.Phe318Ser
ENST00000421817.5:c.*235T>C	ENSP00000411466.1:n.*235T>C
ENST00000452174.5:c.757T>C	ENSP00000409198.1:n.757T>C
ENST00000479558.5:n.951T>C
ENST00000494398.5:n.953T>C
ENST00000684145.1:c.197T>C	ENSP00000508396.1:p.Phe66Ser