Canonical Allele Identifier: CA349740123
Gene: CERKL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181558581C>G , CM000664.2:g.181558581C>G GRCh38
NC_000002.11:g.182423308C>G , CM000664.1:g.182423308C>G GRCh37
NC_000002.10:g.182131553C>G NCBI36
NG_021178.1:g.103527G>C
NG_021178.2:g.103527G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000684145.1:c.49G>C ENSP00000508396.1:p.Gly17Arg
ENST00000410087.8:c.805G>C MANE Select ENSP00000386725.3:p.Gly269Arg
ENST00000339098.9:c.883G>C ENSP00000341159.5:p.Gly295Arg
ENST00000374967.6:c.741G>C ENSP00000364106.2:n.741G>C
ENST00000374969.6:c.482-8873G>C ENSP00000364108.2:n.482-8873G>C
ENST00000374970.6:c.614-8873G>C ENSP00000364109.2:n.614-8873G>C
ENST00000409440.7:c.751G>C ENSP00000387080.3:p.Gly251Arg
ENST00000410087.7:c.805G>C ENSP00000386725.3:p.Gly269Arg
ENST00000421817.5:c.*87G>C ENSP00000411466.1:n.*87G>C
ENST00000452174.5:c.609G>C ENSP00000409198.1:n.609G>C
ENST00000479558.5:n.803G>C
ENST00000494398.5:n.805G>C
NM_001030311.2:c.883G>C NP_001025482.1:p.Gly295Arg
NM_001030312.2:c.482-8873G>C NP_001025483.1:n.482-8873G>C
NM_001030313.2:c.614-8873G>C NP_001025484.1:n.614-8873G>C
NM_001160277.1:c.751G>C NP_001153749.1:p.Gly251Arg
NM_201548.4:c.805G>C NP_963842.1:p.Gly269Arg
NR_027689.1:n.710G>C
NR_027690.1:n.842G>C
NM_201548.5:c.805G>C MANE Select NP_963842.1:p.Gly269Arg
NM_001030311.3:c.883G>C NP_001025482.1:p.Gly295Arg
NM_001030312.3:c.482-8873G>C NP_001025483.1:n.482-8873G>C
NM_001030313.3:c.614-8873G>C NP_001025484.1:n.614-8873G>C
NM_001160277.2:c.751G>C NP_001153749.1:p.Gly251Arg
NR_027689.2:n.708G>C
NR_027690.2:n.840G>C