Canonical Allele Identifier: CA2010416
Community Standard Title: NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181539164G>C , CM000664.2:g.181539164G>C GRCh38
NC_000002.11:g.182403891G>C , CM000664.1:g.182403891G>C GRCh37
NC_000002.10:g.182112136G>C NCBI36
NG_021178.1:g.122944C>G
NG_050623.1:g.87273G>C
NG_021178.2:g.122944C>G

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.1466C>G MANE Select NP_963842.1:p.Thr489Ser
ENST00000410087.8:c.1466C>G MANE Select ENSP00000386725.3:p.Thr489Ser
NM_001030311.2:c.1544C>G NP_001025482.1:p.Thr515Ser
NM_001030311.3:c.1544C>G NP_001025482.1:p.Thr515Ser
NM_001030312.2:c.1127C>G NP_001025483.1:p.Thr376Ser
NM_001030312.3:c.1127C>G NP_001025483.1:p.Thr376Ser
NM_001030313.2:c.1259C>G NP_001025484.1:p.Thr420Ser
NM_001030313.3:c.1259C>G NP_001025484.1:p.Thr420Ser
NM_001160277.1:c.1412C>G NP_001153749.1:p.Thr471Ser
NM_001160277.2:c.1412C>G NP_001153749.1:p.Thr471Ser
NM_201548.4:c.1466C>G NP_963842.1:p.Thr489Ser
NR_027689.1:n.1371C>G
NR_027689.2:n.1369C>G
NR_027690.1:n.1503C>G
NR_027690.2:n.1501C>G
ENST00000339098.9:c.1544C>G ENSP00000341159.5:p.Thr515Ser
ENST00000374967.6:c.1402C>G ENSP00000364106.2:n.1402C>G
ENST00000374969.6:c.1127C>G ENSP00000364108.2:p.Thr376Ser
ENST00000374970.6:c.1259C>G ENSP00000364109.2:p.Thr420Ser
ENST00000409440.7:c.1412C>G ENSP00000387080.3:p.Thr471Ser
ENST00000410087.7:c.1466C>G ENSP00000386725.3:p.Thr489Ser
ENST00000421817.5:c.*722C>G ENSP00000411466.1:n.*722C>G
ENST00000452174.5:c.1270C>G ENSP00000409198.1:n.1270C>G
ENST00000494398.5:n.2258C>G
ENST00000684145.1:c.710C>G ENSP00000508396.1:p.Thr237Ser