Canonical Allele Identifier: CA349734466
Community Standard Title: NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181544762G>A , CM000664.2:g.181544762G>A GRCh38
NC_000002.11:g.182409489G>A , CM000664.1:g.182409489G>A GRCh37
NC_000002.10:g.182117734G>A NCBI36
NG_021178.1:g.117346C>T
NG_021178.2:g.117346C>T

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.1303C>T MANE Select NP_963842.1:p.Arg435Ter
ENST00000410087.8:c.1303C>T MANE Select ENSP00000386725.3:p.Arg435Ter
NM_001030311.2:c.1381C>T NP_001025482.1:p.Arg461Ter
NM_001030311.3:c.1381C>T NP_001025482.1:p.Arg461Ter
NM_001030312.2:c.964C>T NP_001025483.1:p.Arg322Ter
NM_001030312.3:c.964C>T NP_001025483.1:p.Arg322Ter
NM_001030313.2:c.1096C>T NP_001025484.1:p.Arg366Ter
NM_001030313.3:c.1096C>T NP_001025484.1:p.Arg366Ter
NM_001160277.1:c.1249C>T NP_001153749.1:p.Arg417Ter
NM_001160277.2:c.1249C>T NP_001153749.1:p.Arg417Ter
NM_201548.4:c.1303C>T NP_963842.1:p.Arg435Ter
NR_027689.1:n.1208C>T
NR_027689.2:n.1206C>T
NR_027690.1:n.1340C>T
NR_027690.2:n.1338C>T
ENST00000339098.9:c.1381C>T ENSP00000341159.5:p.Arg461Ter
ENST00000374967.6:c.1239C>T ENSP00000364106.2:n.1239C>T
ENST00000374969.6:c.964C>T ENSP00000364108.2:p.Arg322Ter
ENST00000374970.6:c.1096C>T ENSP00000364109.2:p.Arg366Ter
ENST00000409440.7:c.1249C>T ENSP00000387080.3:p.Arg417Ter
ENST00000410087.7:c.1303C>T ENSP00000386725.3:p.Arg435Ter
ENST00000421817.5:c.*559C>T ENSP00000411466.1:n.*559C>T
ENST00000452174.5:c.1107C>T ENSP00000409198.1:n.1107C>T
ENST00000479558.5:n.1301C>T
ENST00000494398.5:n.2095C>T
ENST00000684145.1:c.547C>T ENSP00000508396.1:p.Arg183Ter