Canonical Allele Identifier: CA2010604

Gene: CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181548803C>T , CM000664.2:g.181548803C>T	GRCh38
NC_000002.11:g.182413530C>T , CM000664.1:g.182413530C>T	GRCh37
NC_000002.10:g.182121775C>T	NCBI36
NG_021178.1:g.113305G>A
NG_021178.2:g.113305G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201548.5:c.950G>A MANE Select	NP_963842.1:p.Arg317His
ENST00000410087.8:c.950G>A MANE Select	ENSP00000386725.3:p.Arg317His
NM_001030311.2:c.1028G>A	NP_001025482.1:p.Arg343His
NM_001030311.3:c.1028G>A	NP_001025482.1:p.Arg343His
NM_001030312.2:c.611G>A	NP_001025483.1:p.Arg204His
NM_001030312.3:c.611G>A	NP_001025483.1:p.Arg204His
NM_001030313.2:c.743G>A	NP_001025484.1:p.Arg248His
NM_001030313.3:c.743G>A	NP_001025484.1:p.Arg248His
NM_001160277.1:c.896G>A	NP_001153749.1:p.Arg299His
NM_001160277.2:c.896G>A	NP_001153749.1:p.Arg299His
NM_201548.4:c.950G>A	NP_963842.1:p.Arg317His
NR_027689.1:n.855G>A
NR_027689.2:n.853G>A
NR_027690.1:n.987G>A
NR_027690.2:n.985G>A
ENST00000339098.9:c.1028G>A	ENSP00000341159.5:p.Arg343His
ENST00000374967.6:c.886G>A	ENSP00000364106.2:n.886G>A
ENST00000374969.6:c.611G>A	ENSP00000364108.2:p.Arg204His
ENST00000374970.6:c.743G>A	ENSP00000364109.2:p.Arg248His
ENST00000409440.7:c.896G>A	ENSP00000387080.3:p.Arg299His
ENST00000410087.7:c.950G>A	ENSP00000386725.3:p.Arg317His
ENST00000421817.5:c.*232G>A	ENSP00000411466.1:n.*232G>A
ENST00000452174.5:c.754G>A	ENSP00000409198.1:n.754G>A
ENST00000479558.5:n.948G>A
ENST00000494398.5:n.950G>A
ENST00000684145.1:c.194G>A	ENSP00000508396.1:p.Arg65His