Canonical Allele Identifier: CA61572402
Community Standard Title: NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181539168C>A , CM000664.2:g.181539168C>A GRCh38
NC_000002.11:g.182403895C>A , CM000664.1:g.182403895C>A GRCh37
NC_000002.10:g.182112140C>A NCBI36
NG_021178.1:g.122940G>T
NG_050623.1:g.87277C>A
NG_021178.2:g.122940G>T

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.1462G>T MANE Select NP_963842.1:p.Glu488Ter
ENST00000410087.8:c.1462G>T MANE Select ENSP00000386725.3:p.Glu488Ter
NM_001030311.2:c.1540G>T NP_001025482.1:p.Glu514Ter
NM_001030311.3:c.1540G>T NP_001025482.1:p.Glu514Ter
NM_001030312.2:c.1123G>T NP_001025483.1:p.Glu375Ter
NM_001030312.3:c.1123G>T NP_001025483.1:p.Glu375Ter
NM_001030313.2:c.1255G>T NP_001025484.1:p.Glu419Ter
NM_001030313.3:c.1255G>T NP_001025484.1:p.Glu419Ter
NM_001160277.1:c.1408G>T NP_001153749.1:p.Glu470Ter
NM_001160277.2:c.1408G>T NP_001153749.1:p.Glu470Ter
NM_201548.4:c.1462G>T NP_963842.1:p.Glu488Ter
NR_027689.1:n.1367G>T
NR_027689.2:n.1365G>T
NR_027690.1:n.1499G>T
NR_027690.2:n.1497G>T
ENST00000339098.9:c.1540G>T ENSP00000341159.5:p.Glu514Ter
ENST00000374967.6:c.1398G>T ENSP00000364106.2:n.1398G>T
ENST00000374969.6:c.1123G>T ENSP00000364108.2:p.Glu375Ter
ENST00000374970.6:c.1255G>T ENSP00000364109.2:p.Glu419Ter
ENST00000409440.7:c.1408G>T ENSP00000387080.3:p.Glu470Ter
ENST00000410087.7:c.1462G>T ENSP00000386725.3:p.Glu488Ter
ENST00000421817.5:c.*718G>T ENSP00000411466.1:n.*718G>T
ENST00000452174.5:c.1266G>T ENSP00000409198.1:n.1266G>T
ENST00000494398.5:n.2254G>T
ENST00000684145.1:c.706G>T ENSP00000508396.1:p.Glu236Ter