Canonical Allele Identifier: CA349741044
Gene: CERKL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181558688T>G , CM000664.2:g.181558688T>G GRCh38
NC_000002.11:g.182423415T>G , CM000664.1:g.182423415T>G GRCh37
NC_000002.10:g.182131660T>G NCBI36
NG_021178.1:g.103420A>C
NG_021178.2:g.103420A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684145.1:c.-59A>C ENSP00000508396.1:n.-59A>C
ENST00000410087.8:c.698A>C MANE Select ENSP00000386725.3:p.Asp233Ala
ENST00000339098.9:c.776A>C ENSP00000341159.5:p.Asp259Ala
ENST00000374967.6:c.634A>C ENSP00000364106.2:p.Met212Leu
ENST00000374969.6:c.482-8980A>C ENSP00000364108.2:n.482-8980A>C
ENST00000374970.6:c.614-8980A>C ENSP00000364109.2:n.614-8980A>C
ENST00000409440.7:c.644A>C ENSP00000387080.3:p.Asp215Ala
ENST00000410087.7:c.698A>C ENSP00000386725.3:p.Asp233Ala
ENST00000421817.5:c.502A>C ENSP00000411466.1:p.Met168Leu
ENST00000452174.5:c.502A>C ENSP00000409198.1:p.Met168Leu
ENST00000466715.5:n.514A>C
ENST00000479558.5:n.696A>C
ENST00000494398.5:n.698A>C
NM_001030311.2:c.776A>C NP_001025482.1:p.Asp259Ala
NM_001030312.2:c.482-8980A>C NP_001025483.1:n.482-8980A>C
NM_001030313.2:c.614-8980A>C NP_001025484.1:n.614-8980A>C
NM_001160277.1:c.644A>C NP_001153749.1:p.Asp215Ala
NM_201548.4:c.698A>C NP_963842.1:p.Asp233Ala
NR_027689.1:n.603A>C
NR_027690.1:n.735A>C
NM_201548.5:c.698A>C MANE Select NP_963842.1:p.Asp233Ala
NM_001030311.3:c.776A>C NP_001025482.1:p.Asp259Ala
NM_001030312.3:c.482-8980A>C NP_001025483.1:n.482-8980A>C
NM_001030313.3:c.614-8980A>C NP_001025484.1:n.614-8980A>C
NM_001160277.2:c.644A>C NP_001153749.1:p.Asp215Ala
NR_027689.2:n.601A>C
NR_027690.2:n.733A>C