Canonical Allele Identifier: CA349742596

Gene: CERKL

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181565477C>T , CM000664.2:g.181565477C>T	GRCh38
NC_000002.11:g.182430204C>T , CM000664.1:g.182430204C>T	GRCh37
NC_000002.10:g.182138449C>T	NCBI36
NG_021178.1:g.96631G>A
NG_021178.2:g.96631G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_201548.5:c.677+581G>A MANE Select	NP_963842.1:n.677+581G>A
ENST00000410087.8:c.677+581G>A MANE Select	ENSP00000386725.3:n.677+581G>A
NM_001030311.2:c.711G>A	NP_001025482.1:p.Trp237Ter
NM_001030311.3:c.711G>A	NP_001025482.1:p.Trp237Ter
NM_001030312.2:c.482-15769G>A	NP_001025483.1:n.482-15769G>A
NM_001030312.3:c.482-15769G>A	NP_001025483.1:n.482-15769G>A
NM_001030313.2:c.613+8276G>A	NP_001025484.1:n.613+8276G>A
NM_001030313.3:c.613+8276G>A	NP_001025484.1:n.613+8276G>A
NM_001160277.1:c.579G>A	NP_001153749.1:p.Trp193Ter
NM_001160277.2:c.579G>A	NP_001153749.1:p.Trp193Ter
NM_201548.4:c.677+581G>A	NP_963842.1:n.677+581G>A
NR_027689.1:n.583-6769G>A
NR_027689.2:n.581-6769G>A
NR_027690.1:n.715-6769G>A
NR_027690.2:n.713-6769G>A
ENST00000339098.9:c.711G>A	ENSP00000341159.5:p.Trp237Ter
ENST00000374967.6:c.614-6769G>A	ENSP00000364106.2:n.614-6769G>A
ENST00000374969.6:c.482-15769G>A	ENSP00000364108.2:n.482-15769G>A
ENST00000374970.6:c.613+8276G>A	ENSP00000364109.2:n.613+8276G>A
ENST00000409440.7:c.579G>A	ENSP00000387080.3:p.Trp193Ter
ENST00000410087.7:c.677+581G>A	ENSP00000386725.3:n.677+581G>A
ENST00000421817.5:c.482-6769G>A	ENSP00000411466.1:n.482-6769G>A
ENST00000452174.5:c.482-6769G>A	ENSP00000409198.1:n.482-6769G>A
ENST00000466715.5:n.494-6769G>A
ENST00000479558.5:n.675+581G>A
ENST00000494398.5:n.677+581G>A
ENST00000684145.1:c.-79-6769G>A	ENSP00000508396.1:n.-79-6769G>A