Canonical Allele Identifier: CA349740431
Gene: CERKL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181558619T>A , CM000664.2:g.181558619T>A GRCh38
NC_000002.11:g.182423346T>A , CM000664.1:g.182423346T>A GRCh37
NC_000002.10:g.182131591T>A NCBI36
NG_021178.1:g.103489A>T
NG_021178.2:g.103489A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684145.1:c.11A>T ENSP00000508396.1:p.Asp4Val
ENST00000410087.8:c.767A>T MANE Select ENSP00000386725.3:p.Asp256Val
ENST00000339098.9:c.845A>T ENSP00000341159.5:p.Asp282Val
ENST00000374967.6:c.703A>T ENSP00000364106.2:n.703A>T
ENST00000374969.6:c.482-8911A>T ENSP00000364108.2:n.482-8911A>T
ENST00000374970.6:c.614-8911A>T ENSP00000364109.2:n.614-8911A>T
ENST00000409440.7:c.713A>T ENSP00000387080.3:p.Asp238Val
ENST00000410087.7:c.767A>T ENSP00000386725.3:p.Asp256Val
ENST00000421817.5:c.*49A>T ENSP00000411466.1:n.*49A>T
ENST00000452174.5:c.571A>T ENSP00000409198.1:n.571A>T
ENST00000479558.5:n.765A>T
ENST00000494398.5:n.767A>T
NM_001030311.2:c.845A>T NP_001025482.1:p.Asp282Val
NM_001030312.2:c.482-8911A>T NP_001025483.1:n.482-8911A>T
NM_001030313.2:c.614-8911A>T NP_001025484.1:n.614-8911A>T
NM_001160277.1:c.713A>T NP_001153749.1:p.Asp238Val
NM_201548.4:c.767A>T NP_963842.1:p.Asp256Val
NR_027689.1:n.672A>T
NR_027690.1:n.804A>T
NM_201548.5:c.767A>T MANE Select NP_963842.1:p.Asp256Val
NM_001030311.3:c.845A>T NP_001025482.1:p.Asp282Val
NM_001030312.3:c.482-8911A>T NP_001025483.1:n.482-8911A>T
NM_001030313.3:c.614-8911A>T NP_001025484.1:n.614-8911A>T
NM_001160277.2:c.713A>T NP_001153749.1:p.Asp238Val
NR_027689.2:n.670A>T
NR_027690.2:n.802A>T