Canonical Allele Identifier: CA2010852
Community Standard Title: NM_201548.5(CERKL):c.385G>T (p.Glu129Ter)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181603933C>A , CM000664.2:g.181603933C>A GRCh38
NC_000002.11:g.182468660C>A , CM000664.1:g.182468660C>A GRCh37
NC_000002.10:g.182176905C>A NCBI36
NG_021178.1:g.58175G>T
NG_021178.2:g.58175G>T

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.385G>T MANE Select NP_963842.1:p.Glu129Ter
ENST00000410087.8:c.385G>T MANE Select ENSP00000386725.3:p.Glu129Ter
NM_001030311.2:c.385G>T NP_001025482.1:p.Glu129Ter
NM_001030311.3:c.385G>T NP_001025482.1:p.Glu129Ter
NM_001030312.2:c.385G>T NP_001025483.1:p.Glu129Ter
NM_001030312.3:c.385G>T NP_001025483.1:p.Glu129Ter
NM_001030313.2:c.385G>T NP_001025484.1:p.Glu129Ter
NM_001030313.3:c.385G>T NP_001025484.1:p.Glu129Ter
NM_001160277.1:c.385G>T NP_001153749.1:p.Glu129Ter
NM_001160277.2:c.385G>T NP_001153749.1:p.Glu129Ter
NM_201548.4:c.385G>T NP_963842.1:p.Glu129Ter
NR_027689.1:n.486G>T
NR_027689.2:n.484G>T
NR_027690.1:n.486G>T
NR_027690.2:n.484G>T
ENST00000339098.9:c.385G>T ENSP00000341159.5:p.Glu129Ter
ENST00000374967.6:c.385G>T ENSP00000364106.2:p.Glu129Ter
ENST00000374969.6:c.385G>T ENSP00000364108.2:p.Glu129Ter
ENST00000374970.6:c.385G>T ENSP00000364109.2:p.Glu129Ter
ENST00000409440.7:c.385G>T ENSP00000387080.3:p.Glu129Ter
ENST00000410087.7:c.385G>T ENSP00000386725.3:p.Glu129Ter
ENST00000421817.5:c.385G>T ENSP00000411466.1:p.Glu129Ter
ENST00000452174.5:c.385G>T ENSP00000409198.1:p.Glu129Ter
ENST00000460319.5:n.304G>T
ENST00000466715.5:n.265G>T
ENST00000476070.1:n.284G>T
ENST00000479558.5:n.383G>T
ENST00000494398.5:n.385G>T
ENST00000497337.1:n.526G>T
ENST00000684145.1:c.-308G>T ENSP00000508396.1:n.-308G>T