Canonical Allele Identifier: CA2010608
Community Standard Title: NM_201548.5(CERKL):c.921C>A (p.Cys307Ter)
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181548832G>T , CM000664.2:g.181548832G>T GRCh38
NC_000002.11:g.182413559G>T , CM000664.1:g.182413559G>T GRCh37
NC_000002.10:g.182121804G>T NCBI36
NG_021178.1:g.113276C>A
NG_021178.2:g.113276C>A

Transcript Alleles

HGVS Amino-acid Change
NM_201548.5:c.921C>A MANE Select NP_963842.1:p.Cys307Ter
ENST00000410087.8:c.921C>A MANE Select ENSP00000386725.3:p.Cys307Ter
NM_001030311.2:c.999C>A NP_001025482.1:p.Cys333Ter
NM_001030311.3:c.999C>A NP_001025482.1:p.Cys333Ter
NM_001030312.2:c.582C>A NP_001025483.1:p.Cys194Ter
NM_001030312.3:c.582C>A NP_001025483.1:p.Cys194Ter
NM_001030313.2:c.714C>A NP_001025484.1:p.Cys238Ter
NM_001030313.3:c.714C>A NP_001025484.1:p.Cys238Ter
NM_001160277.1:c.867C>A NP_001153749.1:p.Cys289Ter
NM_001160277.2:c.867C>A NP_001153749.1:p.Cys289Ter
NM_201548.4:c.921C>A NP_963842.1:p.Cys307Ter
NR_027689.1:n.826C>A
NR_027689.2:n.824C>A
NR_027690.1:n.958C>A
NR_027690.2:n.956C>A
ENST00000339098.9:c.999C>A ENSP00000341159.5:p.Cys333Ter
ENST00000374967.6:c.857C>A ENSP00000364106.2:n.857C>A
ENST00000374969.6:c.582C>A ENSP00000364108.2:p.Cys194Ter
ENST00000374970.6:c.714C>A ENSP00000364109.2:p.Cys238Ter
ENST00000409440.7:c.867C>A ENSP00000387080.3:p.Cys289Ter
ENST00000410087.7:c.921C>A ENSP00000386725.3:p.Cys307Ter
ENST00000421817.5:c.*203C>A ENSP00000411466.1:n.*203C>A
ENST00000452174.5:c.725C>A ENSP00000409198.1:n.725C>A
ENST00000479558.5:n.919C>A
ENST00000494398.5:n.921C>A
ENST00000684145.1:c.165C>A ENSP00000508396.1:p.Cys55Ter