Canonical Allele Identifier: CA252246
Gene: CERKL HGNC NCBI

Linked Data

ClinVar Variation Id: 2364
dbSNP Id: rs121909398

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181558617G>A , CM000664.2:g.181558617G>A GRCh38
NC_000002.11:g.182423344G>A , CM000664.1:g.182423344G>A GRCh37
NC_000002.10:g.182131589G>A NCBI36
NG_021178.1:g.103491C>T
NG_021178.2:g.103491C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684145.1:c.13C>T ENSP00000508396.1:p.Arg5Ter
ENST00000410087.8:c.769C>T MANE Select ENSP00000386725.3:p.Arg257Ter
ENST00000339098.9:c.847C>T ENSP00000341159.5:p.Arg283Ter
ENST00000374967.6:c.705C>T ENSP00000364106.2:n.705C>T
ENST00000374969.6:c.482-8909C>T ENSP00000364108.2:n.482-8909C>T
ENST00000374970.6:c.614-8909C>T ENSP00000364109.2:n.614-8909C>T
ENST00000409440.7:c.715C>T ENSP00000387080.3:p.Arg239Ter
ENST00000410087.7:c.769C>T ENSP00000386725.3:p.Arg257Ter
ENST00000421817.5:c.*51C>T ENSP00000411466.1:n.*51C>T
ENST00000452174.5:c.573C>T ENSP00000409198.1:n.573C>T
ENST00000479558.5:n.767C>T
ENST00000494398.5:n.769C>T
NM_001030311.2:c.847C>T NP_001025482.1:p.Arg283Ter
NM_001030312.2:c.482-8909C>T NP_001025483.1:n.482-8909C>T
NM_001030313.2:c.614-8909C>T NP_001025484.1:n.614-8909C>T
NM_001160277.1:c.715C>T NP_001153749.1:p.Arg239Ter
NM_201548.4:c.769C>T NP_963842.1:p.Arg257Ter
NR_027689.1:n.674C>T
NR_027690.1:n.806C>T
NM_201548.5:c.769C>T MANE Select NP_963842.1:p.Arg257Ter
NM_001030311.3:c.847C>T NP_001025482.1:p.Arg283Ter
NM_001030312.3:c.482-8909C>T NP_001025483.1:n.482-8909C>T
NM_001030313.3:c.614-8909C>T NP_001025484.1:n.614-8909C>T
NM_001160277.2:c.715C>T NP_001153749.1:p.Arg239Ter
NR_027689.2:n.672C>T
NR_027690.2:n.804C>T