Canonical Allele Identifier: CA2010503
Community Standard Title: NM_201548.5(CERKL):c.1177C>T (p.Gln393Ter)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181547709G>A , CM000664.2:g.181547709G>A GRCh38
NC_000002.11:g.182412436G>A , CM000664.1:g.182412436G>A GRCh37
NC_000002.10:g.182120681G>A NCBI36
NG_021178.1:g.114399C>T
NG_021178.2:g.114399C>T

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.1177C>T MANE Select NP_963842.1:p.Gln393Ter
ENST00000410087.8:c.1177C>T MANE Select ENSP00000386725.3:p.Gln393Ter
NM_001030311.2:c.1255C>T NP_001025482.1:p.Gln419Ter
NM_001030311.3:c.1255C>T NP_001025482.1:p.Gln419Ter
NM_001030312.2:c.838C>T NP_001025483.1:p.Gln280Ter
NM_001030312.3:c.838C>T NP_001025483.1:p.Gln280Ter
NM_001030313.2:c.970C>T NP_001025484.1:p.Gln324Ter
NM_001030313.3:c.970C>T NP_001025484.1:p.Gln324Ter
NM_001160277.1:c.1123C>T NP_001153749.1:p.Gln375Ter
NM_001160277.2:c.1123C>T NP_001153749.1:p.Gln375Ter
NM_201548.4:c.1177C>T NP_963842.1:p.Gln393Ter
NR_027689.1:n.1082C>T
NR_027689.2:n.1080C>T
NR_027690.1:n.1214C>T
NR_027690.2:n.1212C>T
ENST00000339098.9:c.1255C>T ENSP00000341159.5:p.Gln419Ter
ENST00000374967.6:c.1113C>T ENSP00000364106.2:n.1113C>T
ENST00000374969.6:c.838C>T ENSP00000364108.2:p.Gln280Ter
ENST00000374970.6:c.970C>T ENSP00000364109.2:p.Gln324Ter
ENST00000409440.7:c.1123C>T ENSP00000387080.3:p.Gln375Ter
ENST00000410087.7:c.1177C>T ENSP00000386725.3:p.Gln393Ter
ENST00000421817.5:c.*433C>T ENSP00000411466.1:n.*433C>T
ENST00000452174.5:c.981C>T ENSP00000409198.1:n.981C>T
ENST00000479558.5:n.1175C>T
ENST00000494398.5:n.1969C>T
ENST00000684145.1:c.421C>T ENSP00000508396.1:p.Gln141Ter