Canonical Allele Identifier: CA349740118
Gene: CERKL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181558580C>G , CM000664.2:g.181558580C>G GRCh38
NC_000002.11:g.182423307C>G , CM000664.1:g.182423307C>G GRCh37
NC_000002.10:g.182131552C>G NCBI36
NG_021178.1:g.103528G>C
NG_021178.2:g.103528G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684145.1:c.50G>C ENSP00000508396.1:p.Gly17Ala
ENST00000410087.8:c.806G>C MANE Select ENSP00000386725.3:p.Gly269Ala
ENST00000339098.9:c.884G>C ENSP00000341159.5:p.Gly295Ala
ENST00000374967.6:c.742G>C ENSP00000364106.2:n.742G>C
ENST00000374969.6:c.482-8872G>C ENSP00000364108.2:n.482-8872G>C
ENST00000374970.6:c.614-8872G>C ENSP00000364109.2:n.614-8872G>C
ENST00000409440.7:c.752G>C ENSP00000387080.3:p.Gly251Ala
ENST00000410087.7:c.806G>C ENSP00000386725.3:p.Gly269Ala
ENST00000421817.5:c.*88G>C ENSP00000411466.1:n.*88G>C
ENST00000452174.5:c.610G>C ENSP00000409198.1:n.610G>C
ENST00000479558.5:n.804G>C
ENST00000494398.5:n.806G>C
NM_001030311.2:c.884G>C NP_001025482.1:p.Gly295Ala
NM_001030312.2:c.482-8872G>C NP_001025483.1:n.482-8872G>C
NM_001030313.2:c.614-8872G>C NP_001025484.1:n.614-8872G>C
NM_001160277.1:c.752G>C NP_001153749.1:p.Gly251Ala
NM_201548.4:c.806G>C NP_963842.1:p.Gly269Ala
NR_027689.1:n.711G>C
NR_027690.1:n.843G>C
NM_201548.5:c.806G>C MANE Select NP_963842.1:p.Gly269Ala
NM_001030311.3:c.884G>C NP_001025482.1:p.Gly295Ala
NM_001030312.3:c.482-8872G>C NP_001025483.1:n.482-8872G>C
NM_001030313.3:c.614-8872G>C NP_001025484.1:n.614-8872G>C
NM_001160277.2:c.752G>C NP_001153749.1:p.Gly251Ala
NR_027689.2:n.709G>C
NR_027690.2:n.841G>C